NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766644.2

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)]

NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)

Gene:
PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)
HGVS:
  • NC_000015.10:g.77035931C>T
  • NG_007526.1:g.45808C>T
  • NM_001321135.2:c.1058C>T
  • NM_001321136.2:c.1088C>T
  • NM_001321137.1:c.1310C>T
  • NM_003978.5:c.1115C>TMANE SELECT
  • NP_001308064.1:p.Ala353Val
  • NP_001308065.1:p.Ala363Val
  • NP_001308066.1:p.Ala437Val
  • NP_003969.2:p.Ala372Val
  • LRG_172t1:c.1115C>T
  • LRG_172:g.45808C>T
  • NC_000015.9:g.77328272C>T
  • NM_003978.3:c.1115C>T
  • NR_135552.2:n.1295C>T
Protein change:
A353V
Links:
dbSNP: rs200188483
NCBI 1000 Genomes Browser:
rs200188483
Molecular consequence:
  • NM_001321135.2:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321136.2:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321137.1:c.1310C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003978.5:c.1115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135552.2:n.1295C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000616835GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 25, 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, SCV000616835.2

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

Description

Identified in a patient with primary immunodeficiency disease who was also hemizygous for a variant in the CD40LG gene, and identified in a patient with fever and lymphadenopathy who was also heterozygous for a variant in the FCN3 gene (Stray-Pedersen et al., 2016; Chi et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27577878, 30290665)

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

Last Updated: Oct 8, 2021

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