NM_000059.4(BRCA2):c.7976+1G>A AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 1, 2024
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:: RCV000235799.18

Allele description [Variation Report for NM_000059.4(BRCA2):c.7976+1G>A]

NM_000059.4(BRCA2):c.7976+1G>A

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.7976+1G>A

HGVS:

NC_000013.11:g.32362694G>A
NG_012772.3:g.52215G>A
NM_000059.4:c.7976+1G>AMANE SELECT
NM_001406719.1:c.7880+1G>A
NM_001406720.1:c.7976+1G>A
NM_001406721.1:c.3044+1G>A
NM_001406722.1:c.1559+1G>A
LRG_293t1:c.7976+1G>A
LRG_293:g.52215G>A
NC_000013.10:g.32936831G>A
NM_000059.3:c.7976+1G>A
U43746.1:n.8204+1G>A

Nucleotide change:

IVS17+1G>A

Links:

Breast Cancer Information Core (BIC) (BRCA2): 8204+1&base_change=G to A; dbSNP: rs81002873

NCBI 1000 Genomes Browser:

rs81002873

Molecular consequence:

NM_000059.4:c.7976+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.7880+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.7976+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.3044+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406722.1:c.1559+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

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
SCV000293485	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 20, 2022)	germline	clinical testing	Citation Link,
SCV005041819	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Apr 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293485

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 20, 2022)

germline

clinical testing

Citation Link,

SCV005041819

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Apr 1, 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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293485.11

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

Description

Canonical splice site variant demonstrated to result in the in-frame deletion of exon 17, impacting BRCA2 function (Wu 2005, Fraile-Bethencourt 2017); Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.8204+1G>A; This variant is associated with the following publications: (PMID: 27157322, 18703817, 31131967, 29922827, 25525159, 17851763, 28339459, 29969168, 28993434, 29446198, 31825140, 30702160, 30078507, 32665702, 15695382)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV005041819.6

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

Description

BRCA2: PVS1, PM2, PS4:Moderate

#	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		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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