NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 24, 2024
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:: RCV000482595.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)]

NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)

HGVS:

NC_000013.11:g.32398447A>G
NG_012772.3:g.87968A>G
NM_000059.4:c.9934A>GMANE SELECT
NP_000050.2:p.Ile3312Val
NP_000050.3:p.Ile3312Val
LRG_293t1:c.9934A>G
LRG_293:g.87968A>G
LRG_293p1:p.Ile3312Val
NC_000013.10:g.32972584A>G
NM_000059.3:c.9934A>G
U43746.1:n.10162A>G

Protein change:

I3312V

Links:

dbSNP: rs80359254

NCBI 1000 Genomes Browser:

rs80359254

Molecular consequence:

NM_000059.4:c.9934A>G - 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
SCV000572910	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 24, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572910

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 24, 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 GeneDx, SCV000572910.5

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

Description

Observed in individuals with personal and/or family history of breast and/or ovarian cancer (PMID: 18779604, 27124784, 31273614, 33471991, 34658299, 34828379, 33773534, 35864222); In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 10162A>G; This variant is associated with the following publications: (PMID: 27403073, 20435227, 16011303, 18779604, 16683254, 27124784, 31273614, 34658299, 10733923, 33471991, 34828379, 28422718, 35864222, 33773534)

#	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 13, 2024

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