NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000599506.2

Allele description [Variation Report for NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)]

NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)

Gene:
NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
HGVS:
  • NC_000018.10:g.23568862_23568863dup
  • NG_012795.1:g.22755_22756dup
  • NM_000271.5:c.423_424dupMANE SELECT
  • NP_000262.2:p.Lys142fs
  • NC_000018.9:g.21148825_21148826insTC
  • NC_000018.9:g.21148826_21148827dup
  • NM_000271.4:c.423_424dup
  • NM_000271.4:c.423_424dupGA
Protein change:
K142fs
Links:
dbSNP: rs773941375
NCBI 1000 Genomes Browser:
rs773941375
Molecular consequence:
  • NM_000271.5:c.423_424dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709826GeneDxcriteria provided, single submitter
Pathogenic
(Sep 16, 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, SCV000709826.1

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

Description

Identified using alternate nomenclature c.424_425insGA in a cohort of individuals with biochemically confirmed Niemann-Pick disease type C, however, the number of individuals harboring this variant and additional clinical information was not provided (Park et al., 2003); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 12955717)

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

Last Updated: Nov 27, 2021

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