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NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 14, 2014
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:
RCV000165998.4

Allele description [Variation Report for NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)]

NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
HGVS:
  • NC_000017.11:g.61683814T>A
  • NG_007409.2:g.184746A>T
  • NM_032043.3:c.3232A>TMANE SELECT
  • NP_114432.2:p.Lys1078Ter
  • NP_114432.2:p.Lys1078Ter
  • LRG_300t1:c.3232A>T
  • LRG_300:g.184746A>T
  • LRG_300p1:p.Lys1078Ter
  • NC_000017.10:g.59761175T>A
  • NM_032043.2:c.3232A>T
  • p.K1078*
Protein change:
K1078*
Links:
dbSNP: rs786202927
NCBI 1000 Genomes Browser:
rs786202927
Molecular consequence:
  • NM_032043.3:c.3232A>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000216756Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely pathogenic
(Oct 14, 2014) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

Gong Z, Kim JE, Leung CC, Glover JN, Chen J.

Mol Cell. 2010 Feb 12;37(3):438-46. doi: 10.1016/j.molcel.2010.01.002.

PubMed [citation]
PMID:
20159562
PMCID:
PMC3695484

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33. doi: 10.1073/pnas.1007983107. Epub 2010 Jun 28.

PubMed [citation]
PMID:
20616022
PMCID:
PMC2906584
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000216756.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The p.K1078* variant, (also known as c.3232A>T) located in coding exon 19 of the BRIP1 gene, results from an A to T substitution at nucleotide position 3232. This changes the amino acid at codon 1078 from a lysine to a stop codon. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of BRIP1, is not expected to trigger nonsense-mediated mRNA decay, and removes the last 171 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time; however, the C-terminal region of the protein has been shown by structural, biochemical, and mutational analysis to be relevant for the protein function (Leung CC et al. J. Biol. Chem. 2011 Feb; 286(6):4292-301. Xie J et al. PLoS Genet. 2012 Jul; 8(7):e1002786; Gong Z et al. Mol. Cell, 2010 Feb;37:438-46). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024