NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 11, 2019
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:: RCV001265934.2

Allele description [Variation Report for NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)]

NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)

Other names:

p.Ala926Thr

HGVS:

NC_000018.10:g.23539830C>T
NG_012795.1:g.51788G>A
NM_000271.5:c.2776G>AMANE SELECT
NP_000262.2:p.Ala926Thr
NC_000018.9:g.21119794C>T
NM_000271.4:c.2776G>A

Protein change:

A926T

Links:

dbSNP: rs564631426

NCBI 1000 Genomes Browser:

rs564631426

Molecular consequence:

NM_000271.5:c.2776G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444106	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Feb 11, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16098014, 28784760 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444106

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Feb 11, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Haitian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ.

Clin Genet. 2005 Sep;68(3):245-54.

PubMed [citation]

PMID:: 16098014

3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport.

Li X, Lu F, Trinh MN, Schmiege P, Seemann J, Wang J, Blobel G.

Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):9116-9121. doi: 10.1073/pnas.1711716114. Epub 2017 Aug 7.

PubMed [citation]

PMID:: 28784760
PMCID:: PMC5576846

Details of each submission

From Ambry Genetics, SCV001444106.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Haitian	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine