NM_004333.6(BRAF):c.469G>A (p.Val157Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 6, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000597251.4

Allele description [Variation Report for NM_004333.6(BRAF):c.469G>A (p.Val157Ile)]

NM_004333.6(BRAF):c.469G>A (p.Val157Ile)

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_004333.6(BRAF):c.469G>A (p.Val157Ile)

HGVS:

NC_000007.14:g.140834644C>T
NG_007873.3:g.95121G>A
NM_001354609.2:c.469G>A
NM_001374244.1:c.469G>A
NM_001374258.1:c.469G>A
NM_001378467.1:c.469G>A
NM_001378468.1:c.469G>A
NM_001378469.1:c.469G>A
NM_001378470.1:c.367G>A
NM_001378471.1:c.469G>A
NM_001378472.1:c.313G>A
NM_001378473.1:c.313G>A
NM_001378474.1:c.469G>A
NM_001378475.1:c.240+15467G>A
NM_004333.6:c.469G>AMANE SELECT
NP_001341538.1:p.Val157Ile
NP_001361173.1:p.Val157Ile
NP_001361187.1:p.Val157Ile
NP_001365396.1:p.Val157Ile
NP_001365397.1:p.Val157Ile
NP_001365398.1:p.Val157Ile
NP_001365399.1:p.Val123Ile
NP_001365400.1:p.Val157Ile
NP_001365401.1:p.Val105Ile
NP_001365402.1:p.Val105Ile
NP_001365403.1:p.Val157Ile
NP_004324.2:p.Val157Ile
LRG_299t1:c.469G>A
LRG_299:g.95121G>A
NC_000007.13:g.140534444C>T
NM_004333.4:c.469G>A

Protein change:

V105I

Links:

dbSNP: rs1258111302

NCBI 1000 Genomes Browser:

rs1258111302

Molecular consequence:

NM_001378475.1:c.240+15467G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354609.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.313G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.313G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709706	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 6, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709706

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 6, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000709706.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: not in HGMD or gen pop studies; completely conserved; Conflicting predictions by prediction tools. Identified in 1 individual with HCM.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine