NM_007294.3(BRCA1):c.5152+2dupT AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jun 11, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000048821.3

Allele description [Variation Report for NM_007294.3(BRCA1):c.5152+2dupT]

NM_007294.3(BRCA1):c.5152+2dupT

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5152+2dupT
HGVS:
  • NC_000017.11:g.43063872dup
  • NG_005905.2:g.154112dup
  • NM_007294.3:c.5152+2dup
  • NM_007297.4:c.5011+2dup
  • NM_007298.3:c.1840+2dup
  • NM_007299.4:c.1840+2dup
  • NM_007300.4:c.5215+2dup
  • LRG_292t1:c.5152+2dup
  • LRG_292:g.154112dup
  • NC_000017.10:g.41215889dup
  • NM_007294.3:c.5152+2dupT
Nucleotide change:
IVS18+2insT
Links:
dbSNP: rs397509231
NCBI 1000 Genomes Browser:
rs397509231
Molecular consequence:
  • NM_007294.3:c.5152+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.5011+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.3:c.1840+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1840+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5215+2dup - 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
SCV000076834Invitaeno assertion criteria providedLikely pathogenic
(Jun 11, 2014)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Invitae, SCV000076834.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. A more detailed explanation of the interpretation for this specific variant is forthcoming. This ClinVar entry will be updated at that time.

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

Last Updated: Apr 18, 2021

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