NM_000059.4(BRCA2):c.316+5G>C AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 16, 2021
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:: RCV000759597.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.316+5G>C]

NM_000059.4(BRCA2):c.316+5G>C

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.316+5G>C

HGVS:

NC_000013.11:g.32319330G>C
NG_012772.3:g.8851G>C
NG_017006.2:g.1034C>G
NM_000059.4:c.316+5G>CMANE SELECT
LRG_293t1:c.316+5G>C
LRG_293:g.8851G>C
NC_000013.10:g.32893467G>C
NM_000059.3:c.316+5G>C

Links:

dbSNP: rs81002840

NCBI 1000 Genomes Browser:

rs81002840

Molecular consequence:

NM_000059.4:c.316+5G>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000889018	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jan 16, 2021)	unknown	clinical testing	PubMed (10) [See all records that cite these PMIDs] 32398771, 29707112, 30883759, 18424508, 21939546, 22505045, 26913838, 29084914, 21120943, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000889018

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Jan 16, 2021)

unknown

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.

Mesman RLS, Calléja FMGR, de la Hoya M, Devilee P, van Asperen CJ, Vrieling H, Vreeswijk MPG.

Genet Med. 2020 Aug;22(8):1355-1365. doi: 10.1038/s41436-020-0814-5. Epub 2020 May 13. Erratum in: Genet Med. 2020 Aug;22(8):1427-1428. doi: 10.1038/s41436-020-0883-5.

PubMed [citation]

PMID:: 32398771
PMCID:: PMC7394881

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators., et al.

Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671.

PubMed [citation]

PMID:: 29707112
PMCID:: PMC5915120

See all PubMed Citations (10)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889018.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

This variant has been reported in individuals with breast/ovarian cancer in the published literature (PMID: 29084914 (2018), 29707112 (2018), 21939546 (2011), 21120943 (2011)). In vitro splicing studies report that the variant causes exon 3 skipping (PMID: 30883759 (2019), 29707112 (2018), 22505045 (2012), 18424508 (2008)), and it significantly segregated with disease in multiple families (PMID: 29707112 (2018)). Based on the available information, the variant is classified as pathogenic.

#	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

Last Updated: Nov 10, 2024

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