NM_004333.6(BRAF):c.2136C>T (p.Ala712=) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 12, 2016
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:: RCV000587057.1

Allele description [Variation Report for NM_004333.6(BRAF):c.2136C>T (p.Ala712=)]

NM_004333.6(BRAF):c.2136C>T (p.Ala712=)

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.2136C>T (p.Ala712=)

HGVS:

NC_000007.14:g.140734762G>A
NG_007873.3:g.195003C>T
NM_001354609.2:c.2136C>T
NM_001374244.1:c.2256C>T
NM_001374258.1:c.2256C>T
NM_001378467.1:c.2145C>T
NM_001378468.1:c.2127+5050C>T
NM_001378469.1:c.2070C>T
NM_001378470.1:c.2034C>T
NM_001378471.1:c.2025C>T
NM_001378472.1:c.1980C>T
NM_001378473.1:c.1980C>T
NM_001378474.1:c.2127+5050C>T
NM_001378475.1:c.1872C>T
NM_004333.6:c.2136C>TMANE SELECT
NP_001341538.1:p.Ala712=
NP_001361173.1:p.Ala752=
NP_001361187.1:p.Ala752=
NP_001365396.1:p.Ala715=
NP_001365398.1:p.Ala690=
NP_001365399.1:p.Ala678=
NP_001365400.1:p.Ala675=
NP_001365401.1:p.Ala660=
NP_001365402.1:p.Ala660=
NP_001365404.1:p.Ala624=
NP_004324.2:p.Ala712=
LRG_299t1:c.2136C>T
LRG_299:g.195003C>T
NC_000007.13:g.140434562G>A
NM_004333.4:c.2136C>T
c.2136C>T
p.Ala712Ala

Links:

dbSNP: rs377165711

NCBI 1000 Genomes Browser:

rs377165711

Molecular consequence:

NM_001378468.1:c.2127+5050C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.2127+5050C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001354609.2:c.2136C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374244.1:c.2256C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374258.1:c.2256C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378467.1:c.2145C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378469.1:c.2070C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378470.1:c.2034C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378471.1:c.2025C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378472.1:c.1980C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378473.1:c.1980C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378475.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004333.6:c.2136C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000698337	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Dec 12, 2016)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000698337

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Dec 12, 2016)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698337.1

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

Description

Variant summary: The BRAF c.2136C>T (p.Ala712Ala) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 7/120766 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0001054 (7/66430). This frequency is about 42 times the estimated maximal expected allele frequency of a pathogenic BRAF variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, one clinical diagnostic laboratory/reputable database classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

#	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

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