chr7:140481405:A>G Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,405-140,481,405
hg38 chr7:140,781,605-140,781,605 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1523T>C NP_004324.2:p.Phe508Ser
Ensemble ENST00000288602.11:c.1523T>C ENST00000288602.11:p.Phe508Ser
ENST00000496384.7:c.1403T>C ENST00000496384.7:p.Phe468Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM28611 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiofaciocutaneous syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-06-02 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2009-06-02 criteria provided, single submitter Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2021-12-01 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2021-02-19 criteria provided, single submitter cardiofaciocutaneous syndrome 1 de novo Detail
Pathogenic 2019-04-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2019-11-29 criteria provided, single submitter germline Detail
Pathogenic 2023-02-24 criteria provided, single submitter BRAF-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND not provided ClinVar Detail
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND RASopathy ClinVar Detail
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND See cases ClinVar Detail
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) AND BRAF-related disorder ClinVar Detail
NA 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
rs397507473 dbSNP
Genome
hg19
Position
chr7:140,481,405-140,481,405
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
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)
121390
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237910865804433E-6
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