NM_000059.4(BRCA2):c.8817_8819del (p.Lys2940del) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 13, 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:: RCV002843872.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.8817_8819del (p.Lys2940del)]

NM_000059.4(BRCA2):c.8817_8819del (p.Lys2940del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8817_8819del (p.Lys2940del)

HGVS:

NC_000013.11:g.32379379_32379381del
NG_012772.3:g.68900_68902del
NM_000059.4:c.8817_8819delMANE SELECT
NM_001406719.1:c.8721_8723delGAA
NM_001406720.1:c.8817_8819delGAA
NM_001406721.1:c.3885_3887delGAA
NM_001406722.1:c.2400_2402delGAA
NP_000050.2:p.Lys2940del
NP_000050.3:p.Lys2940del
NP_001393648.1:p.Lys2908del
NP_001393649.1:p.Lys2940del
NP_001393650.1:p.Lys1296del
NP_001393651.1:p.Lys801del
LRG_293t1:c.8817_8819del
LRG_293:g.68900_68902del
LRG_293p1:p.Lys2940del
NC_000013.10:g.32953514_32953516del
NC_000013.10:g.32953516_32953518del
NM_000059.3:c.8817_8819delGAA
NR_176251.1:n.9080_9082delGAA

Protein change:

K1296del

Molecular consequence:

NM_000059.4:c.8817_8819del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406719.1:c.8721_8723delGAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406720.1:c.8817_8819delGAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406721.1:c.3885_3887delGAA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406722.1:c.2400_2402delGAA - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV003220018	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 13, 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

SCV003220018

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 13, 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, SCV003220018.2

#	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.8817_8819del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Lys2940del), but otherwise preserves the integrity of the reading frame.

#	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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