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NM_007294.3(BRCA1):c.5152+1G>T AND Hereditary breast and ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 11, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000048820.3

Allele description

NM_007294.3(BRCA1):c.5152+1G>T

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.5152+1G>T
Other names:
IVS18+1G>T
HGVS:
  • NC_000017.11:g.43063873C>A
  • NG_005905.2:g.154111G>T
  • NM_007294.3:c.5152+1G>T
  • NM_007297.4:c.5011+1G>T
  • NM_007298.3:c.1840+1G>T
  • NM_007299.4:c.1840+1G>T
  • NM_007300.4:c.5215+1G>T
  • LRG_292t1:c.5152+1G>T
  • LRG_292:g.154111G>T
  • NC_000017.10:g.41215890C>A
  • U14680.1:n.5271+1G>T
Links:
BRCA1-HCI: BRCA1_00142; Breast Cancer Information Core (BIC) (BRCA1): 5271+1&base_change=G to T; dbSNP: rs80358094
NCBI 1000 Genomes Browser:
rs80358094
Molecular consequence:
  • NM_007294.3:c.5152+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.5011+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.3:c.1840+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1840+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5215+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000076833Invitae
no assertion criteria provided
Pathogenic
(Jun 11, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Invitae, SCV000076833.3

#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
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2020