chr7:140753332:T>G Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,132-140,453,132 View the variant detail on this assembly version.
hg38 chr7:140,753,332-140,753,332

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1923A>C NP_004324.2:p.Lys641Asn
Ensemble ENST00000288602.11:c.1923A>C ENST00000288602.11:p.Lys641Asn
ENST00000496384.7:c.1803A>C ENST00000496384.7:p.Lys601Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 COSM1132 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 Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Thyroid tumor somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Uncertain significance 2020-03-31 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 B-Cell Lymphomas Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
<0.001 diffuse large B-cell lymphoma Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
<0.001 diffuse large B-cell lymphoma Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
0.001 B-Cell Lymphomas Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Prostate adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Thyroid tumor ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Gastric adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND RASopathy ClinVar Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... 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
rs121913365 dbSNP
Genome
hg38
Position
chr7:140,753,332-140,753,332
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser