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NM_000059.4(BRCA2):c.9956CTC[1] (p.Pro3320del) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 31, 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:
RCV000539984.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.9956CTC[1] (p.Pro3320del)]

NM_000059.4(BRCA2):c.9956CTC[1] (p.Pro3320del)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.9956CTC[1] (p.Pro3320del)
HGVS:
  • NC_000013.11:g.32398469CTC[1]
  • NG_012772.3:g.87990CTC[1]
  • NM_000059.4:c.9956CTC[1]MANE SELECT
  • NP_000050.3:p.Pro3320del
  • LRG_293t1:c.9959_9961del
  • LRG_293:g.87990CTC[1]
  • NC_000013.10:g.32972606CTC[1]
  • NC_000013.10:g.32972606_32972608del
  • NM_000059.3:c.9959_9961del
  • NM_000059.3:c.9959_9961delCTC
  • NM_000059.4:c.9959_9961delMANE SELECT
Protein change:
P3320del
Links:
dbSNP: rs745685382
NCBI 1000 Genomes Browser:
rs745685382
Molecular consequence:
  • NM_000059.4:c.9956CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000635769Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Dec 31, 2023)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C, Rizza R, Paris I, Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E.

Cancers (Basel). 2020 May 19;12(5). doi:pii: E1286. 10.3390/cancers12051286.

PubMed [citation]
PMID:
32438681
PMCID:
PMC7281099

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, SCV000635769.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant, c.9959_9961del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Pro3320del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745685382, gnomAD 0.0009%). This variant has been observed in individual(s) with personal history of breast and/or ovarian cancer (PMID: 32438681). ClinVar contains an entry for this variant (Variation ID: 462542). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024