chr7:140753334:T>G Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,134-140,453,134 View the variant detail on this assembly version.
hg38 chr7:140,753,334-140,753,334

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1921A>C NP_004324.2:p.Lys641Gln
Ensemble ENST00000288602.11:c.1921A>C ENST00000288602.11:p.Lys641Gln
ENST00000496384.7:c.1801A>C ENST00000496384.7:p.Lys601Gln
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-11-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-01-02 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2019-01-02 criteria provided, single submitter Noonan syndrome,Cardio-facio-cutaneous syndrome germline Detail
Pathogenic 2023-04-20 criteria provided, single submitter RASopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Splenic Marginal Zone B-Cell Lymphoma A BRAF K601E mutation was detected in a patient with splenic marginal zone lymph... BeFree 22133769 Detail
0.002 Thyroid Gland Follicular Adenoma A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. BeFree 12881714 Detail
<0.001 Traditional Serrated Adenoma We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
0.124 Follicular thyroid carcinoma NA CLINVAR Detail
0.049 Metastatic melanoma Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic mela... BeFree 24933606 Detail
0.080 Adenomatous Polyposis Coli We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
<0.001 Traditional Serrated Adenoma We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
0.002 Follicular neoplasm In contrast, BRAF-mutated cases with diagnoses of atypia of undetermined signifi... BeFree 22887810 Detail
0.777 Adenomatous Polyposis Coli We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
0.002 follicular adenoma A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. BeFree 12881714 Detail
0.006 Metastatic melanoma We carried out a retrospective analysis of efficacy and safety in four patients ... BeFree 24933606 Detail
0.124 Follicular thyroid carcinoma BRAF(K601E) mutation in a patient with a follicular thyroid carcinoma. BeFree 22136270 Detail
0.360 Noonan syndrome 7 NA CLINVAR Detail
0.135 colon carcinoma NA CLINVAR Detail
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
0.325 Papillary thyroid carcinoma Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF(V600E)), this p... BeFree 22136270 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) AND RASopathy ClinVar Detail
A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. DisGeNET Detail
A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
NA DisGeNET Detail
Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic melanoma. DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
In contrast, BRAF-mutated cases with diagnoses of atypia of undetermined significance/follicular les... DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. DisGeNET Detail
We carried out a retrospective analysis of efficacy and safety in four patients with BRAF K601E and ... DisGeNET Detail
BRAF(K601E) mutation in a patient with a follicular thyroid carcinoma. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF(V600E)), this patient's mutation wa... 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
rs121913364 dbSNP
Genome
hg38
Position
chr7:140,753,334-140,753,334
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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