NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 28, 2022
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:: RCV000586974.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)]

NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)

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.8942A>G (p.Glu2981Gly)

HGVS:

NC_000013.11:g.32379504A>G
NG_012772.3:g.69025A>G
NM_000059.4:c.8942A>GMANE SELECT
NP_000050.2:p.Glu2981Gly
NP_000050.3:p.Glu2981Gly
LRG_293t1:c.8942A>G
LRG_293:g.69025A>G
LRG_293p1:p.Glu2981Gly
NC_000013.10:g.32953641A>G
NM_000059.3:c.8942A>G

Nucleotide change:

9170A>G

Protein change:

E2981G

Links:

dbSNP: rs398122716

NCBI 1000 Genomes Browser:

rs398122716

Molecular consequence:

NM_000059.4:c.8942A>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
SCV001470463	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Oct 25, 2019)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 28480178, 24916970, 26467025
SCV002540380	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001470463

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Oct 25, 2019)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002540380

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 28, 2022)

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.

Park HS, Park SJ, Kim JY, Kim S, Ryu J, Sohn J, Park S, Kim GM, Hwang IS, Choi JR, Kim SI.

Ann Surg Treat Res. 2017 May;92(5):331-339. doi: 10.4174/astr.2017.92.5.331. Epub 2017 Apr 27.

PubMed [citation]

PMID:: 28480178
PMCID:: PMC5416916

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Peixoto A, Santos C, Pinto P, Pinheiro M, Rocha P, Pinto C, Bizarro S, Veiga I, Principe AS, Maia S, Castro F, Couto R, Gouveia A, Teixeira MR.

Clin Genet. 2015 Jul;88(1):41-8. doi: 10.1111/cge.12441. Epub 2014 Jul 26.

PubMed [citation]

PMID:: 24916970

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470463.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

From GeneDx, SCV002540380.2

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 9170A>G; This variant is associated with the following publications: (PMID: 24916970, 22144684, 12228710, 28480178, 32422573, 34072659, 34287479)

#	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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