NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000425463.2

Allele description [Variation Report for NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)]

NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)

Gene:
PRUNE1:prune exopolyphosphatase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)
HGVS:
  • NC_000001.11:g.151017860G>A
  • NG_052875.1:g.14470G>A
  • NM_001303229.2:c.-256G>A
  • NM_001303242.2:c.88G>A
  • NM_001303243.2:c.-172G>A
  • NM_021222.3:c.88G>AMANE SELECT
  • NP_001290171.1:p.Asp30Asn
  • NP_067045.1:p.Asp30Asn
  • NC_000001.10:g.150990336G>A
  • NM_021222.1:c.88G>A
  • NM_021222.2:c.88G>A
  • NR_130131.2:n.272G>A
  • NR_130132.2:n.272G>A
  • NR_130135.2:n.272G>A
Protein change:
D30N; ASP30ASN
Links:
OMIM: 617413.0002; dbSNP: rs1057521927
NCBI 1000 Genomes Browser:
rs1057521927
Molecular consequence:
  • NM_001303229.2:c.-256G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001303243.2:c.-172G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001303242.2:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021222.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_130131.2:n.272G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_130132.2:n.272G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_130135.2:n.272G>A - 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
SCV000525097GeneDxcriteria provided, single submitter
Pathogenic
(Oct 13, 2020)
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, SCV000525097.3

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

Description

Published functional studies demonstrate a damaging effect with impaired microtubule polymerization, cell migration, and cell proliferation properties (Zollo et al., 2017); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26539891, 28334956)

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

Last Updated: Sep 29, 2021

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