NM_000942.5(PPIB):c.344-1G>T AND none provided

Clinical significance:Likely pathogenic (Last evaluated: Dec 10, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285947.1

Allele description [Variation Report for NM_000942.5(PPIB):c.344-1G>T]

NM_000942.5(PPIB):c.344-1G>T

Genes:
PPIB:peptidylprolyl isomerase B [Gene - OMIM - HGNC]
SNX22:sorting nexin 22 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_000942.5(PPIB):c.344-1G>T
HGVS:
  • NC_000015.10:g.64156910C>A
  • NG_012979.1:g.11246G>T
  • NG_033071.1:g.10194C>A
  • NM_000942.5:c.344-1G>TMANE SELECT
  • NM_024798.3:c.*2402C>AMANE SELECT
  • LRG_10t1:c.344-1G>T
  • LRG_10:g.11246G>T
  • NC_000015.9:g.64449109C>A
  • NR_073534.2:n.3076C>A
Links:
Molecular consequence:
  • NM_024798.3:c.*2402C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_073534.2:n.3076C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000942.5:c.344-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472460ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Dec 10, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001472460.1

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

Description

The PPIB c.344-1G>T variant (rs748284900), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the general population at a low overall frequency of 0.00199% (5/251,348 alleles) in the Genome Aggregation Database. This variant abolishes the canonical splice acceptor site of intron 3, which is likely to disrupt gene function. Based on available information, this variant is considered to be likely pathogenic.

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

Last Updated: May 29, 2021

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