NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 24, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000044221.3

Allele description

NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs)
HGVS:
  • NC_000013.11:g.32337909_32337918delCAGTTGAAAT
  • NG_012772.3:g.27430_27439delCAGTTGAAAT
  • NM_000059.3:c.3554_3563delCAGTTGAAAT
  • NP_000050.2:p.Thr1185Ilefs
  • LRG_293t1:c.3554_3563delCAGTTGAAAT
  • LRG_293:g.27430_27439delCAGTTGAAAT
  • LRG_293p1:p.Thr1185Ilefs
  • NC_000013.10:g.32912046_32912055delCAGTTGAAAT
  • NM_000059.3:c.3554_3563del10
  • p.(Thr1185IlefsTer9)
Links:
dbSNP: rs397507675
NCBI 1000 Genomes Browser:
rs397507675
Molecular consequence:
  • NM_000059.3:c.3554_3563delCAGTTGAAAT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000072234Invitaecriteria provided, single submitter
Pathogenic
(Jun 24, 2016)
germlineclinical testing

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

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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000072234.4

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

Description

This sequence change deletes 10 nucleotides from exon 11 of the BRCA2 mRNA (c.3554_3563del), causing a frameshift at codon 1185. This creates a premature translational stop signal (p.Thr1185Ilefs*9) 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 in an individual affected with breast cancer (PMID: 22085629). This variant is also known as c.3782del10. 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: Sep 19, 2018