NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 8, 2023
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:: RCV000588917.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)]

NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)

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.2837A>G (p.Asp946Gly)

Other names:

p.D946G:GAT>GGT

HGVS:

NC_000013.11:g.32337192A>G
NG_012772.3:g.26713A>G
NM_000059.4:c.2837A>GMANE SELECT
NP_000050.2:p.Asp946Gly
NP_000050.3:p.Asp946Gly
LRG_293t1:c.2837A>G
LRG_293:g.26713A>G
LRG_293p1:p.Asp946Gly
NC_000013.10:g.32911329A>G
NM_000059.3:c.2837A>G
U43746.1:n.3065A>G
p.D946G

Protein change:

D946G

Links:

dbSNP: rs55972907

NCBI 1000 Genomes Browser:

rs55972907

Molecular consequence:

NM_000059.4:c.2837A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus protein tyrosine phosphatase, receptor type, J (Ptprj), mRNA
Mus musculus protein tyrosine phosphatase, receptor type, J (Ptprj), mRNA
gi|22128620|ref|NM_008982.1|

Nucleotide
Mus musculus WW domain-containing oxidoreductase, mRNA (cDNA clone MGC:25975 IMA...
Mus musculus WW domain-containing oxidoreductase, mRNA (cDNA clone MGC:25975 IMAGE:4241066), complete cds
gi|15928475|gb|BC014716.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210294	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 8, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210294

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 8, 2023)

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, SCV000210294.13

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

Description

Observed in a woman with breast cancer diagnosed under age 35 who also carried a second BRCA2 missense variant (Encinas et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 3065A>G; This variant is associated with the following publications: (PMID: 23929434, 20858050, 29884841, 32377563, 29854292)

#	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: Sep 29, 2024

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