NM_001374258.1(BRAF):c.1918G>A (p.Val640Met) AND not provided

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001357636.1

Allele description [Variation Report for NM_001374258.1(BRAF):c.1918G>A (p.Val640Met)]

NM_001374258.1(BRAF):c.1918G>A (p.Val640Met)

Gene:
BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_001374258.1(BRAF):c.1918G>A (p.Val640Met)
HGVS:
  • NC_000007.14:g.140753337C>T
  • NG_007873.3:g.176428G>A
  • NM_001354609.2:c.1798G>A
  • NM_001374244.1:c.1918G>A
  • NM_001374258.1:c.1918G>AMANE SELECT
  • NM_001378467.1:c.1807G>A
  • NM_001378468.1:c.1798G>A
  • NM_001378469.1:c.1732G>A
  • NM_001378470.1:c.1696G>A
  • NM_001378471.1:c.1687G>A
  • NM_001378472.1:c.1642G>A
  • NM_001378473.1:c.1642G>A
  • NM_001378474.1:c.1798G>A
  • NM_001378475.1:c.1534G>A
  • NM_004333.6:c.1798G>A
  • NP_001341538.1:p.Val600Met
  • NP_001361173.1:p.Val640Met
  • NP_001361187.1:p.Val640Met
  • NP_001365396.1:p.Val603Met
  • NP_001365397.1:p.Val600Met
  • NP_001365398.1:p.Val578Met
  • NP_001365399.1:p.Val566Met
  • NP_001365400.1:p.Val563Met
  • NP_001365401.1:p.Val548Met
  • NP_001365402.1:p.Val548Met
  • NP_001365403.1:p.Val600Met
  • NP_001365404.1:p.Val512Met
  • NP_004324.2:p.Val600Met
  • LRG_299t1:c.1798G>A
  • LRG_299:g.176428G>A
  • NC_000007.13:g.140453137C>T
  • NM_004333.4:c.1798G>A
  • c.1798G>A
Protein change:
V512M
Links:
dbSNP: rs121913378
NCBI 1000 Genomes Browser:
rs121913378
Molecular consequence:
  • NM_001354609.2:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001553161Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001553161.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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