NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000284654.1

Allele description

NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu)

Gene:
BRIP1:BRCA1 interacting protein C-terminal helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu)
HGVS:
  • NC_000017.11:g.61780325G>A
  • NG_007409.2:g.88235C>T
  • NM_032043.2:c.1871C>T
  • NP_114432.2:p.Ser624Leu
  • LRG_300t1:c.1871C>T
  • LRG_300:g.88235C>T
  • LRG_300p1:p.Ser624Leu
  • NC_000017.10:g.59857686G>A
  • p.S624L
Protein change:
S624L
Links:
dbSNP: rs587781321
NCBI 1000 Genomes Browser:
rs587781321
Molecular consequence:
  • NM_032043.2:c.1871C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329158GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 2, 2016)
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, SCV000329158.3

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

Description

This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Ser624Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Serine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRIP1 Ser624Leu occurs at a position that is conserved across species and is located in the helicase domain (Cantor 2011). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRIP1 Ser624Leu 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: May 8, 2017

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