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NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2015
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:
RCV000045681.2

Allele description

NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs)

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.8988_8990delinsTT (p.Leu2996fs)
HGVS:
  • NC_000013.11:g.32379784_32379786delinsTT
  • NG_012772.3:g.69305_69307delinsTT
  • NM_000059.4:c.8988_8990delinsTTMANE SELECT
  • NP_000050.2:p.Leu2996fs
  • NP_000050.3:p.Leu2996fs
  • LRG_293t1:c.8988_8990delinsTT
  • LRG_293:g.69305_69307delinsTT
  • LRG_293p1:p.Leu2996fs
  • NC_000013.10:g.32953921_32953923delinsTT
  • NM_000059.3:c.8988_8990delATAinsTT
  • NM_000059.3:c.8988_8990delinsTT
Protein change:
L2996fs
Links:
dbSNP: rs397508027
NCBI 1000 Genomes Browser:
rs397508027
Molecular consequence:
  • NM_000059.4:c.8988_8990delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]

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)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073694Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 10, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000073694.4

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

Description

This sequence change deletes 3 nucleotides and inserts 2 nucleotides in exon 23 of the BRCA2 mRNA (c.8988_2990delATAinsTT), causing a frameshift at codon 2996. This creates a premature translational stop signal (p.Leu2996Phefs*5) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular truncation has been reported in the literature (PMID: 19616529). This variant is also known as c.9216_9218delATAinsTT in the literature. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 18, 2022