chr12:25360224:A>C Detail (hg19) (KRAS, ETFRF1)

Information

Genome

Assembly Position
hg19 chr12:25,360,224-25,360,224
hg38 chr12:25,207,290-25,207,290 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000553788.6:c.52-1905A>C
Type Transcript Protein
RefSeq NM_004985.4:c.*2505T>G
NM_033360.3:c.*2505T>G
Ensemble ENST00000256078.10:c.*2626T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 27052 HGNC
Ensembl ENSG00000205707 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45280396 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 190070 OMIM
HGNC 6407 HGNC
Ensembl ENSG00000133703 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45280396 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2016-06-14 criteria provided, single submitter Noonan syndrome germline Detail
Benign 2024-01-22 criteria provided, single submitter RASopathy germline Detail
Benign 2017-11-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovary epithelial cancer Carboplatin,Paclitaxel B Predictive Supports Resistance Common Germline 3 22139083 Detail
head and neck squamous cell carcinoma Cisplatin B Predictive Supports Resistance Common Germline 3 25081901 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 breast carcinoma KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... BeFree 22436609 Detail
0.160 colorectal cancer Using site-specific homologous recombination, we inserted the rs61764370:T&gt;G ... BeFree 24282149 Detail
<0.001 Hereditary Breast and Ovarian Cancer Syndrome Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was... BeFree 20676756 Detail
0.240 Malignant neoplasm of breast KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... BeFree 22436609 Detail
0.007 ovarian carcinoma Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was... BeFree 20676756 Detail
0.004 Epithelial ovarian cancer The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications ... BeFree 21385923 Detail
0.017 Malignant neoplasm of ovary Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was... BeFree 20676756 Detail
0.080 breast carcinoma KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... BeFree 22436609 Detail
0.480 Malignant neoplasm of breast Prevalence of the variant allele rs61764370 T&gt;G in the 3'UTR of KRAS among Du... BeFree 20676756 Detail
0.321 Non-small cell lung carcinoma Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was... BeFree 20676756 Detail
0.008 Malignant neoplasm of breast KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... BeFree 22436609 Detail
0.080 breast carcinoma Prevalence of the variant allele rs61764370 T&gt;G in the 3'UTR of KRAS among Du... BeFree 20676756 Detail
<0.001 Breast Cancer, Familial Our data do not support the hypothesis that the KRAS variant rs61764370 is impli... BeFree 22436609 Detail
0.082 colorectal carcinoma Using site-specific homologous recombination, we inserted the rs61764370:T&gt;G ... BeFree 24282149 Detail
Annotation

Annotations

DescrptionSourceLinks
The functional variant rs61764370 in the KRAS gene 3' UTR (KRAS-variant) was found to be correlated ... CIViC Evidence Detail
In the retrospective analysis of 103 HNSSC, the TG/GG rs61764370 variant was associated with poor re... CIViC Evidence Detail
NM_033360.4(KRAS):c.*2626T>G AND Noonan syndrome ClinVar Detail
NM_033360.4(KRAS):c.*2626T>G AND RASopathy ClinVar Detail
NM_033360.4(KRAS):c.*2626T>G AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... DisGeNET Detail
Using site-specific homologous recombination, we inserted the rs61764370:T&gt;G KRAS gene variant in... DisGeNET Detail
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was shown to be associa... DisGeNET Detail
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... DisGeNET Detail
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was shown to be associa... DisGeNET Detail
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing... DisGeNET Detail
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was shown to be associa... DisGeNET Detail
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... DisGeNET Detail
Prevalence of the variant allele rs61764370 T&gt;G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and... DisGeNET Detail
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T&gt;G) was shown to be associa... DisGeNET Detail
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... DisGeNET Detail
Prevalence of the variant allele rs61764370 T&gt;G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and... DisGeNET Detail
Our data do not support the hypothesis that the KRAS variant rs61764370 is implicated in the aetiolo... DisGeNET Detail
Using site-specific homologous recombination, we inserted the rs61764370:T&gt;G KRAS gene variant in... 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
rs61764370 dbSNP
Genome
hg19
Position
chr12:25,360,224-25,360,224
Variant Type
snv
Reference Allele
A
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs61764370
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Variant (CIViC) (CIViC Variant)
RS61764370
Transcript 1 (CIViC Variant)
ENST00000311936.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/254
Summary (CIViC Variant)
Germline variant in the 3' UTR of KRAS that predicts resistance to platinum-based therapy.
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