chr7:140501337:T>G Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,501,337-140,501,337
hg38 chr7:140,801,537-140,801,537 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.735A>C NP_004324.2:p.Leu245Phe
Ensemble ENST00000288602.11:c.735A>C ENST00000288602.11:p.Leu245Phe
ENST00000496384.7:c.735A>C ENST00000496384.7:p.Leu245Phe
Summary

MGeND

Clinical significance
Variant entry
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 COSM3634278 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-07-03 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2020-12-28 criteria provided, multiple submitters, no conflicts Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2009-09-01 no assertion criteria provided LEOPARD syndrome 3 germline Detail
Pathogenic 2022-06-27 criteria provided, single submitter RASopathy germline Detail
Likely pathogenic 2017-05-18 criteria provided, single submitter Noonan syndrome 7,Noonan syndrome 1,cardiofaciocutaneous syndrome 1,lung carcinoma,LEOPARD syndrome 3 unknown Detail
Likely pathogenic 2017-05-18 criteria provided, single submitter Noonan syndrome 7,Noonan syndrome 1,cardiofaciocutaneous syndrome 1,lung carcinoma,LEOPARD syndrome 3 unknown Detail
Likely pathogenic 2017-05-18 criteria provided, single submitter Noonan syndrome 7,Noonan syndrome 1,cardiofaciocutaneous syndrome 1,lung carcinoma,LEOPARD syndrome 3 unknown Detail
Likely pathogenic 2017-05-18 criteria provided, single submitter Noonan syndrome 7,Noonan syndrome 1,cardiofaciocutaneous syndrome 1,lung carcinoma,LEOPARD syndrome 3 unknown Detail
Likely pathogenic 2017-05-18 criteria provided, single submitter Noonan syndrome 7,Noonan syndrome 1,cardiofaciocutaneous syndrome 1,lung carcinoma,LEOPARD syndrome 3 unknown Detail
Pathogenic 2019-05-10 reviewed by expert panel Noonan syndrome and Noonan-related syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
0.241 LEOPARD Syndrome NA CLINVAR Detail
0.567 Cardio-facio-cutaneous syndrome We speculate that the impact of p.L245F on BRAF protein function differs either ... BeFree 19416762 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND LEOPARD syndrome 3 ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or qua... 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
rs397507466 dbSNP
Genome
hg19
Position
chr7:140,501,337-140,501,337
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser