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NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2017
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:
RCV000657405.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs)]

NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs)

Gene:
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs)
HGVS:
  • NC_000017.11:g.61683744_61683754delinsCTGGATCCAGAGACAA
  • NG_007409.2:g.184806_184816delinsTTGTCTCTGGATCCAG
  • NM_032043.3:c.3292_3302delinsTTGTCTCTGGATCCAGMANE SELECT
  • NP_114432.2:p.Ala1098fs
  • LRG_300:g.184806_184816delinsTTGTCTCTGGATCCAG
  • NC_000017.10:g.59761105_59761115delinsCTGGATCCAGAGACAA
  • NM_032043.2:c.3292_3302delGCCCTGGATCCinsTTGTCTCTGGATCCAG
Protein change:
A1098fs
Links:
dbSNP: rs1555572707
NCBI 1000 Genomes Browser:
rs1555572707
Molecular consequence:
  • NM_032043.3:c.3292_3302delinsTTGTCTCTGGATCCAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779140GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 31, 2017) 		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, SCV000779140.1

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

Description

This combined deletion and insertion is denoted BRIP1 c.3292_3302del11ins16 at the cDNA level and p.Ala1098LeufsX12 (A1098LfsX12) at the protein level. The surrounding sequence is AGAA[del11][ins16]AGAC. The variant causes a frameshift which changes an Alanine to a Leucine at codon 1098, and creates a premature stop codon at position 12 of the new reading frame. Due to the position of the variant, nonsense mediated decay is not expected to occur, but the variant might cause loss of normal protein function through protein truncation.?? The disrupted region at the end of the gene is not located in a known functional domain. This variant has not, to our knowledge, been reported in the literature. Based on currently available information, it is unclear whether this variant is pathogenic or benign. 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: Sep 8, 2024