NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001383911.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)]

NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
HGVS:
  • NC_000017.11:g.43093426A>C
  • NG_005905.2:g.124558T>G
  • NM_007294.3:c.2105T>G
  • NM_007294.4:c.2105T>GMANE SELECT
  • NM_007297.4:c.1964T>G
  • NM_007298.3:c.787+1318T>G
  • NM_007299.4:c.787+1318T>G
  • NM_007300.4:c.2105T>G
  • NP_009225.1:p.Leu702Ter
  • NP_009225.1:p.Leu702Ter
  • NP_009228.2:p.Leu655Ter
  • NP_009231.2:p.Leu702Ter
  • LRG_292t1:c.2105T>G
  • LRG_292:g.124558T>G
  • LRG_292p1:p.Leu702Ter
  • NC_000017.10:g.41245443A>C
  • NR_027676.2:n.2282T>G
  • U14680.1:n.2224T>G
Protein change:
L655*
Links:
dbSNP: rs80357298
NCBI 1000 Genomes Browser:
rs80357298
Molecular consequence:
  • NM_007298.3:c.787+1318T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1318T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2282T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.2105T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.2105T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.1964T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.2105T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001583239Invitaecriteria provided, single submitter
Pathogenic
(Jan 19, 2020)
germlineclinical testing

PubMed (3)
[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

BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.

Li A, Xie R, Zhi Q, Deng Y, Wu Y, Li W, Yang L, Jiao Z, Luo J, Zi Y, Sun G, Zhang J, Shi Y, Liu J.

Gynecol Oncol. 2018 Oct;151(1):145-152. doi: 10.1016/j.ygyno.2018.07.024. Epub 2018 Aug 2.

PubMed [citation]
PMID:
30078507

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001583239.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Leu702*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ovarian cancer (PMID: 30078507). ClinVar contains an entry for this variant (Variation ID: 54460). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). 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: Aug 27, 2021

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