chr17:31214524:A>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,541,542-29,541,542 View the variant detail on this assembly version.
hg38 chr17:31,214,524-31,214,524

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.1466A>G NP_000258.1:p.Tyr489Cys
NM_001042492.2:c.1466A>G NP_001035957.1:p.Tyr489Cys
NM_001128147.2:c.1466A>G NP_001121619.1:p.Tyr489Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613113 OMIM
HGNC 7765 HGNC
Ensembl ENSG00000196712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv398612480 TogoVar
COSMIC COSM329089 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-18 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 de novo germline unknown Detail
Pathogenic 2014-07-11 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-06-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2018-11-10 criteria provided, single submitter Neurofibromatosis, type 1 de novo Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Pathogenic 2021-12-14 criteria provided, single submitter juvenile myelomonocytic leukemia,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1 unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter juvenile myelomonocytic leukemia,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1 unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter juvenile myelomonocytic leukemia,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1 unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter juvenile myelomonocytic leukemia,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1 unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter juvenile myelomonocytic leukemia,Café-au-lait macules with pulmonary stenosis,Neurofibromatosis, familial spinal,neurofibromatosis-Noonan syndrome,Neurofibromatosis, type 1 unknown Detail
Pathogenic 2023-08-25 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
0.670 neurofibromatosis 1 Automated comparative sequence analysis identifies mutations in 89% of NF1 patie... UNIPROT 15060124 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND Rhabdomyosarcoma ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND Abnormality of the skin ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND Juvenile myelomonocytic leukemia ClinVar Detail
NA DisGeNET Detail
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m... 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
rs137854557 dbSNP
Genome
hg38
Position
chr17:31,214,524-31,214,524
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8542
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120006
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6665833374997917E-5
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