chr7:140477854:A>G Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,477,854-140,477,854
hg38 chr7:140,778,054-140,778,054 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1574T>C NP_004324.2:p.Leu525Ser
Ensemble ENST00000288602.11:c.1574T>C ENST00000288602.11:p.Leu525Ser
ENST00000496384.7:c.1454T>C ENST00000496384.7:p.Leu485Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM341473 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-07-11 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2019-08-19 criteria provided, multiple submitters, no conflicts Cardio-facio-cutaneous syndrome germline Detail
Likely pathogenic 2020-02-27 reviewed by expert panel RASopathy germline Detail
Likely pathogenic 2018-04-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Noonan syndrome 1,Noonan syndrome 7,LEOPARD syndrome 3,Melanoma, cutaneous malignant, susceptibility to, 1,cardiofaciocutaneous syndrome 1,lung cancer,colorectal cancer unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
0.567 Cardio-facio-cutaneous syndrome A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c... BeFree 20395089 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) e... 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
rs397507475 dbSNP
Genome
hg19
Position
chr7:140,477,854-140,477,854
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser