NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs) AND Niemann-Pick disease, type C1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 19, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002309787.2

Allele description [Variation Report for NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)]

NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)

Gene:

NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)

HGVS:

NC_000018.10:g.23568969_23568971delinsA
NG_012795.1:g.22647_22649delinsT
NG_012795.2:g.22535_22537delinsT
NM_000271.5:c.315_317delinsTMANE SELECT
NP_000262.1:p.Asn106Profs
NP_000262.2:p.Asn106fs
NC_000018.9:g.21148933_21148935delinsA
NM_000271.3:c.315_317delGAAinsT

Protein change:

N106fs

Molecular consequence:

NM_000271.5:c.315_317delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Niemann-Pick disease, type C1
Synonyms:: NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, chronic neuronopathic form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009757; MedGen: C3179455; Orphanet: 646; OMIM: 257220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002603666	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Feb 19, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002603666

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Feb 19, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002603666.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

NM_000271.4(NPC1):c.315_317delGAAinsT(N106Pfs*4) is expected to be pathogenic in the context of Niemann-Pick disease type C1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NPC1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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