NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760960.1

Allele description [Variation Report for NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)]

NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)

Gene:
BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)
HGVS:
  • NC_000023.11:g.153723154T>A
  • NG_009022.2:g.3287T>A
  • NG_023231.1:g.6593A>T
  • NM_001139441.1:c.91A>T
  • NM_001139457.2:c.292A>T
  • NM_001256447.2:c.91A>T
  • NM_005745.7:c.91A>T
  • NP_001132913.1:p.Arg31Ter
  • NP_001132929.1:p.Arg98Ter
  • NP_001243376.1:p.Arg31Ter
  • NP_005736.3:p.Arg31Ter
  • NC_000023.10:g.152988609T>A
Protein change:
R31*
Links:
dbSNP: rs1569540524
NCBI 1000 Genomes Browser:
rs1569540524
Molecular consequence:
  • NM_001139441.1:c.91A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001139457.2:c.292A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256447.2:c.91A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005745.7:c.91A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000890857GeneDxcriteria provided, single submitter
Pathogenic
(Jan 31, 2019)
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, SCV000890857.1

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

Description

The R31X variant in the BCAP31 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R31X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R31X as a pathogenic variant.

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

Last Updated: Aug 31, 2019

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