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NM_007294.3(BRCA1):c.5075-1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000480623.1

Allele description

NM_007294.3(BRCA1):c.5075-1G>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.5075-1G>A
Other names:
IVS17-1G>A
HGVS:
  • NC_000017.11:g.43063952C>T
  • NG_005905.2:g.154032G>A
  • NM_007294.3:c.5075-1G>A
  • LRG_292t1:c.5075-1G>A
  • LRG_292:g.154032G>A
  • NC_000017.10:g.41215969C>T
  • U14680.1:n.5194-1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5194-1&base_change=G to A; dbSNP: rs1800747
NCBI 1000 Genomes Browser:
rs1800747
Molecular consequence:
  • NM_007294.3:c.5075-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000564746GeneDxcriteria provided, single submitter
Pathogenic
(Feb 16, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000564746.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This pathogenic variant is denoted BRCA1 c.5075-1 G>A or IVS16-1 G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 c.5194-1G>A using alternate nomenclature, has been reported to be pathogenic in association with hereditary breast cancer (Jara 2006). We therefore consider this variant to be pathogenic.

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

Last Updated: Mar 31, 2019

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