NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412772.1

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp)]

NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp)

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.856A>G (p.Asn286Asp)
HGVS:
  • NC_000015.10:g.77032879A>G
  • NG_007526.1:g.42756A>G
  • NM_001321135.2:c.872+451A>G
  • NM_001321136.2:c.829A>G
  • NM_001321137.1:c.1051A>G
  • NM_003978.5:c.856A>GMANE SELECT
  • NP_001308065.1:p.Asn277Asp
  • NP_001308066.1:p.Asn351Asp
  • NP_003969.2:p.Asn286Asp
  • LRG_172t1:c.856A>G
  • LRG_172:g.42756A>G
  • NC_000015.9:g.77325220A>G
  • NM_003978.3:c.856A>G
Protein change:
N277D
Links:
dbSNP: rs377437961
NCBI 1000 Genomes Browser:
rs377437961
Molecular consequence:
  • NM_001321135.2:c.872+451A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321136.2:c.829A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321137.1:c.1051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003978.5:c.856A>G - 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
SCV000490748GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 5, 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, SCV000490748.1

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

Description

To our knowledge, the N286D missense substitution has neither been published as a pathogenic variant, nor as a benign polymorphism. N286D represents a non-conservative amino acid substitution, as a neutral Asparagine residue is replaced by a negatively charged Aspartic Acid residue. In addition, this substitution occurs at a position in the PSTPIP1 protein that is highly conserved among species and is part of the coiled-coil domain. However, all currently known pathogenic variants in the PSTPIP1 gene have been identified in exons 10 and 11 and the pathogenicity of missense changes outside of these exons is unclear.

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

Last Updated: Oct 8, 2021

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