NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000229743.2

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)]

NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)

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.1213C>T (p.Arg405Cys)
HGVS:
  • NC_000015.10:g.77037138C>T
  • NG_007526.1:g.47015C>T
  • NM_001321135.2:c.1156C>T
  • NM_001321136.2:c.1186C>T
  • NM_001321137.1:c.1408C>T
  • NM_003978.5:c.1213C>TMANE SELECT
  • NP_001308064.1:p.Arg386Cys
  • NP_001308065.1:p.Arg396Cys
  • NP_001308066.1:p.Arg470Cys
  • NP_003969.2:p.Arg405Cys
  • LRG_172t1:c.1213C>T
  • LRG_172:g.47015C>T
  • NC_000015.9:g.77329479C>T
  • NM_003978.3:c.1213C>T
  • NR_135552.2:n.1393C>T
Protein change:
R386C
Links:
dbSNP: rs201253322
NCBI 1000 Genomes Browser:
rs201253322
Molecular consequence:
  • NM_001321135.2:c.1156C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321136.2:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321137.1:c.1408C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003978.5:c.1213C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135552.2:n.1393C>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
SCV000291956GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 22, 2021)
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, SCV000291956.2

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

Description

Published functional studies demonstrate that R405C may alter the interaction of PSTPIP1 with cytoskeleton and cell migration regulators (Starnes et al., 2014); This substitution does not occur in the coiled-coil domain region, the region where definitive PAPA-associated variants have been identified to date.; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24764557, 27106250, 24421327, 26713508, 30619323)

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

Last Updated: Oct 8, 2021

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