NM_000059.4(BRCA2):c.8828_8829delinsGA (p.Gln2943Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2022
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:: RCV003055842.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.8828_8829delinsGA (p.Gln2943Arg)]

NM_000059.4(BRCA2):c.8828_8829delinsGA (p.Gln2943Arg)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8828_8829delinsGA (p.Gln2943Arg)

HGVS:

NC_000013.11:g.32379390_32379391delinsGA
NG_012772.3:g.68911_68912delinsGA
NM_000059.4:c.8828_8829delinsGAMANE SELECT
NM_001406719.1:c.8732_8733delAGinsGA
NM_001406720.1:c.8828_8829delAGinsGA
NM_001406721.1:c.3896_3897delAGinsGA
NM_001406722.1:c.2411_2412delAGinsGA
NP_000050.2:p.Gln2943Arg
NP_000050.3:p.Gln2943Arg
NP_001393648.1:p.Gln2911Arg
NP_001393649.1:p.Gln2943Arg
NP_001393650.1:p.Gln1299Arg
NP_001393651.1:p.Gln804Arg
LRG_293t1:c.8828_8829delAGinsGA
LRG_293:g.68911_68912delinsGA
LRG_293p1:p.Gln2943Arg
NC_000013.10:g.32953527_32953528delinsGA
NM_000059.3:c.8828_8829delAGinsGA
NR_176251.1:n.9091_9092delAGinsGA

Protein change:

Q1299R

Molecular consequence:

NM_000059.4:c.8828_8829delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406719.1:c.8732_8733delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406720.1:c.8828_8829delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406721.1:c.3896_3897delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406722.1:c.2411_2412delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003352025	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003352025

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 19, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003352025.2

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

Description

This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2943 of the BRCA2 protein (p.Gln2943Arg). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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