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NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs) AND Hereditary breast and ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 2016
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:
RCV000047743.3

Allele description

NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs)
Other names:
2295delCT-ter738
HGVS:
  • NC_000017.11:g.43093354_43093355delAG
  • NG_005905.2:g.124629_124630delCT
  • NM_007294.3:c.2176_2177delCT
  • NM_007298.3:c.787+1389_787+1390delCT
  • NP_009225.1:p.Leu726Serfs
  • LRG_292t1:c.2176_2177delCT
  • LRG_292:g.124629_124630delCT
  • LRG_292p1:p.Leu726Serfs
  • NC_000017.10:g.41245371_41245372delAG
  • NM_007294.3:c.2176_2177del
  • NR_027676.1:n.2312_2313delCT
  • p.Leu726fs
Links:
dbSNP: rs397508945
NCBI 1000 Genomes Browser:
rs397508945
Molecular consequence:
  • NM_007294.3:c.2176_2177delCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1389_787+1390delCT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.2312_2313delCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075756Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 10, 2016) 		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, SCV000075756.4

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

Description

This sequence change deletes 2 nucleotides from exon 10 of the BRCA1 mRNA (c.2176_2177delCT), causing a frameshift at codon 726. This creates a premature translational stop signal (p.Leu726Serfs*13) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). This particular variant has been reported in a family with breast and ovarian cancer (PMID: 15340362). This variant is also known as 2295delCT 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: Sep 30, 2018