NM_000059.4(BRCA2):c.3908_3909delinsAA (p.Gly1303Glu) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 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:: RCV003645725.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3908_3909delinsAA (p.Gly1303Glu)]

NM_000059.4(BRCA2):c.3908_3909delinsAA (p.Gly1303Glu)

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.3908_3909delinsAA (p.Gly1303Glu)

HGVS:

NC_000013.11:g.32338263_32338264delinsAA
NG_012772.3:g.27784_27785delinsAA
NM_000059.4:c.3908_3909delinsAAMANE SELECT
NM_001406719.1:c.3908_3909delinsAA
NM_001406720.1:c.3908_3909delinsAA
NM_001406721.1:c.1909+4876_1909+4877delinsAA
NM_001406722.1:c.425-6295_425-6294delinsAA
NP_000050.2:p.Gly1303Glu
NP_000050.3:p.Gly1303Glu
NP_001393648.1:p.Gly1303Glu
NP_001393649.1:p.Gly1303Glu
LRG_293t1:c.3908_3909delGCinsAA
LRG_293:g.27784_27785delinsAA
LRG_293p1:p.Gly1303Glu
NC_000013.10:g.32912400_32912401delinsAA
NM_000059.3:c.3908_3909delGCinsAA
NR_176251.1:n.4107_4108delinsAA

Protein change:

G1303E

Molecular consequence:

NM_001406721.1:c.1909+4876_1909+4877delinsAA - intron variant - [Sequence Ontology: SO:0001627]
NM_001406722.1:c.425-6295_425-6294delinsAA - intron variant - [Sequence Ontology: SO:0001627]
NM_000059.4:c.3908_3909delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406719.1:c.3908_3909delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001406720.1:c.3908_3909delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NR_176251.1:n.4107_4108delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004428232	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 12, 2023)	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

SCV004428232

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 12, 2023)

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, SCV004428232.1

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

Description

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. 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: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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 sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1303 of the BRCA2 protein (p.Gly1303Glu).

#	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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