chr11:534288:C>G Detail (hg19) (HRAS, LRRC56)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:534,288-534,288 |
| hg38 | chr11:534,288-534,288 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001318054.1:c.35G>C | NP_001304983.1:p.Gly12Ala |
| NM_176795.4:c.35G>C | NP_789765.1:p.Gly12Ala | |
| NM_001130442.2:c.35G>C | NP_001123914.1:p.Gly12Ala |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000019
(TMGS000036) |
Yoichi Matsubara | National Center for Child Health and Development | ||||
|
Pathogenic
|
Costello syndrome |
germline
|
MGS000009
(TMGS000039) |
Shoji Tsuji | Tokyo University | ||||
|
Pathogenic
|
Kidney |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-04-21 | criteria provided, multiple submitters, no conflicts | Costello syndrome |
germline
|
Detail |
|
Pathogenic
|
2019-12-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Nasopharyngeal neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2016-03-03 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,Malignant tumor of urinary bladder,Thyroid cancer, nonmedullary, 2,linear nevus sebaceous syndrome,Costello syndrome,large congenital melanocytic nevus |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,Malignant tumor of urinary bladder,Thyroid cancer, nonmedullary, 2,linear nevus sebaceous syndrome,Costello syndrome,large congenital melanocytic nevus |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,Malignant tumor of urinary bladder,Thyroid cancer, nonmedullary, 2,linear nevus sebaceous syndrome,Costello syndrome,large congenital melanocytic nevus |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,Malignant tumor of urinary bladder,Thyroid cancer, nonmedullary, 2,linear nevus sebaceous syndrome,Costello syndrome,large congenital melanocytic nevus |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,Malignant tumor of urinary bladder,Thyroid cancer, nonmedullary, 2,linear nevus sebaceous syndrome,Costello syndrome,large congenital melanocytic nevus |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,Malignant tumor of urinary bladder,Thyroid cancer, nonmedullary, 2,linear nevus sebaceous syndrome,Costello syndrome,large congenital melanocytic nevus |
unknown
|
Detail |
|
Pathogenic
|
2020-09-01 | no assertion criteria provided | rhabdomyosarcoma |
germline
|
Detail |
|
Pathogenic
|
2021-04-06 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | thymic carcinoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | Thymoma, type C | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| 0.455 | Costello syndrome (disorder) | Two cases with severe lethal course of Costello syndrome associated with HRAS p.... | BeFree | 22926243 | Detail |
| 0.017 | Carcinogenesis | We found that TRAIL expression is consistently downregulated in HRAS(G12V)-trans... | BeFree | 21697397 | Detail |
| <0.001 | Immunologic Deficiency Syndromes | Primary human and bovine adrenocortical cells were transduced with retroviruses ... | BeFree | 15342398 | Detail |
| 0.003 | Carcinogenesis | We found that TRAIL expression is consistently downregulated in HRAS(G12V)-trans... | BeFree | 21697397 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Costello syndrome | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND not provided | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Adenoid cystic carcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Thyroid tumor | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Nasopharyngeal neoplasm | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Breast neoplasm | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Glioblastoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Multiple myeloma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Inborn genetic diseases | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND multiple conditions | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Rhabdomyosarcoma | ClinVar | Detail |
| NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. | DisGeNET | Detail |
| We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in step... | DisGeNET | Detail |
| Primary human and bovine adrenocortical cells were transduced with retroviruses encoding Ha-Ras(G12V... | DisGeNET | Detail |
| We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in step... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs104894230 dbSNP
- Genome
- hg19
- Position
- chr11:534,288-534,288
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser