NM_007294.3(BRCA1):c.441+1G>A AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001381878.1

Allele description [Variation Report for NM_007294.3(BRCA1):c.441+1G>A]

NM_007294.3(BRCA1):c.441+1G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.441+1G>A
HGVS:
  • NC_000017.11:g.43104121C>T
  • NG_005905.2:g.113863G>A
  • NM_007294.3:c.441+1G>A
  • NM_007297.4:c.300+1G>A
  • NM_007298.3:c.441+1G>A
  • NM_007299.4:c.441+1G>A
  • NM_007300.4:c.441+1G>A
  • LRG_292t1:c.441+1G>A
  • LRG_292:g.113863G>A
  • NC_000017.10:g.41256138C>T
  • NM_007294.4:c.441+1G>AMANE SELECT
Links:
dbSNP: rs397509172
NCBI 1000 Genomes Browser:
rs397509172
Molecular consequence:
  • NM_007294.3:c.441+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.300+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.3:c.441+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.441+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.441+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001580450Invitaecriteria provided, single submitter
Pathogenic
(Dec 30, 2019)
germlineclinical testing

PubMed (5)
[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

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.

Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, et al.

Int J Cancer. 2019 Jan 15;144(2):281-289. doi: 10.1002/ijc.31601. Epub 2018 Nov 8.

PubMed [citation]
PMID:
29752822

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.

Chen X, Truong TT, Weaver J, Bove BA, Cattie K, Armstrong BA, Daly MB, Godwin AK.

Hum Mutat. 2006 May;27(5):427-35.

PubMed [citation]
PMID:
16619214
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001580450.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change affects a donor splice site in intron 6 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results 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 breast cancer (PMID: 16619214, 29752822). ClinVar contains an entry for this variant (Variation ID: 55195). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16619214). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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: Sep 18, 2021

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