chr7:140501336:C>G Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,501,336-140,501,336
hg38 chr7:140,801,536-140,801,536 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.736G>C NP_004324.2:p.Ala246Pro
Ensemble ENST00000288602.11:c.736G>C ENST00000288602.11:p.Ala246Pro
ENST00000496384.7:c.736G>C ENST00000496384.7:p.Ala246Pro
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiofaciocutaneous syndrome germline MGS000019
(TMGS000036) 		Yoichi Matsubara National Center for Child Health and Development
Pathogenic 2017/03/30 cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-03-01 no assertion criteria provided cardiofaciocutaneous syndrome 1 germline Detail
Pathogenic 2013-08-02 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2013-08-02 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2017-04-03 reviewed by expert panel Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2023-04-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-06-15 no assertion criteria provided Noonan syndrome germline Detail
Pathogenic 2022-09-01 criteria provided, single submitter RASopathy germline Detail
Pathogenic no assertion criteria provided Noonan syndrome 1 unknown de novo Detail
Pathogenic criteria provided, single submitter Noonan syndrome 7 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
0.360 Noonan syndrome 7 NA CLINVAR Detail
0.567 Cardio-facio-cutaneous syndrome Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF rep... BeFree 20523244 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Noonan syndrome ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Noonan syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Noonan syndrome 7 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC... 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
rs180177034 dbSNP
Genome
hg19
Position
chr7:140,501,336-140,501,336
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser