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NM_032043.2(BRIP1):c.1474-7C>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000400309.2

Allele description [Variation Report for NM_032043.2(BRIP1):c.1474-7C>A]

NM_032043.2(BRIP1):c.1474-7C>A

Gene:
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.2(BRIP1):c.1474-7C>A
HGVS:
  • NC_000017.11:g.61784431G>T
  • NG_007409.2:g.84129C>A
  • LRG_300t1:c.1474-7C>A
  • LRG_300:g.84129C>A
  • NC_000017.10:g.59861792G>T
  • NM_032043.2:c.1474-7C>A
  • NM_032043.3:c.1474-7C>AMANE SELECT
Links:
dbSNP: rs886041146
NCBI 1000 Genomes Browser:
rs886041146

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329157GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 22, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329157.7

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

Description

This variant is denoted BRIP1 c.1474-7C>A or IVS10-7C>A and consists of a C>A nucleotide substitution at the -7 position of intron 10 of the BRIP1 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 c.1474-7C>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is not conserved. In silico splicing models are inconsistent regarding the effect this variant may have on gene splicing. Based on currently available evidence, it is unclear whether BRIP1 c.1474-7C>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Mar 5, 2024