chr7:140453987:T>G Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,987-140,453,987
hg38 chr7:140,754,187-140,754,187 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1861A>C NP_004324.2:p.Asn621His
Ensemble ENST00000288602.11:c.1861A>C ENST00000288602.11:p.Asn621His
ENST00000496384.7:c.1741A>C ENST00000496384.7:p.Asn581His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM3634275 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma, sporadic somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Uncertain significance 2021-09-01 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2022-12-21 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
0.567 Cardio-facio-cutaneous syndrome In this case report, we present a male CFCS patient with tight Achilles tendons ... BeFree 22876591 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND Multiple myeloma ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND Neoplasm of the large intestine ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) AND BRAF-related disorder ClinVar Detail
NA DisGeNET Detail
In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heter... 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
rs180177040 dbSNP
Genome
hg19
Position
chr7:140,453,987-140,453,987
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser