NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 11, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000788373.5

Allele description [Variation Report for NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)]

NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)

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.2135C>A (p.Ala712Asp)

HGVS:

NC_000007.14:g.140734763G>T
NG_007873.3:g.195002C>A
NM_001354609.2:c.2135C>A
NM_001374244.1:c.2255C>A
NM_001374258.1:c.2255C>A
NM_001378467.1:c.2144C>A
NM_001378468.1:c.2127+5049C>A
NM_001378469.1:c.2069C>A
NM_001378470.1:c.2033C>A
NM_001378471.1:c.2024C>A
NM_001378472.1:c.1979C>A
NM_001378473.1:c.1979C>A
NM_001378474.1:c.2127+5049C>A
NM_001378475.1:c.1871C>A
NM_004333.6:c.2135C>AMANE SELECT
NP_001341538.1:p.Ala712Asp
NP_001361173.1:p.Ala752Asp
NP_001361187.1:p.Ala752Asp
NP_001365396.1:p.Ala715Asp
NP_001365398.1:p.Ala690Asp
NP_001365399.1:p.Ala678Asp
NP_001365400.1:p.Ala675Asp
NP_001365401.1:p.Ala660Asp
NP_001365402.1:p.Ala660Asp
NP_001365404.1:p.Ala624Asp
NP_004324.2:p.Ala712Asp
LRG_299t1:c.2135C>A
LRG_299:g.195002C>A
NC_000007.13:g.140434563G>T
NM_004333.4:c.2135C>A

Protein change:

A624D

Links:

dbSNP: rs727502904

NCBI 1000 Genomes Browser:

rs727502904

Molecular consequence:

NM_001378468.1:c.2127+5049C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.2127+5049C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354609.2:c.2135C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.2255C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.2255C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.2144C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.2069C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.2033C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.2024C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1979C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1979C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1871C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.2135C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000927458	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Oct 31, 2017)	germline	clinical testing	Citation Link,
SCV002012567	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 11, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000927458

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Oct 31, 2017)

germline

clinical testing

Citation Link,

SCV002012567

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 11, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927458.1

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

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

From GeneDx, SCV002012567.3

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

Description

Reported as de novo in an individual from a cohort of rare disease patients in published literature (PMID: 33726816); proband clinical information not provided; Not observed at significant frequency in large population cohorts (gnomAD); The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33726816)

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

Last Updated: Oct 8, 2024

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