NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) AND not provided

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 2, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000078477.3

Allele description

NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val)

HGVS:

NC_000018.10:g.23536814G>A
NG_012795.1:g.54804C>T
NM_000271.4:c.3104C>T
NP_000262.2:p.Ala1035Val
NC_000018.9:g.21116778G>A
O15118:p.Ala1035Val

Protein change:

A1035V; ALA1035VAL

Links:

UniProtKB: O15118#VAR_015567; OMIM: 607623.0016; dbSNP: rs28942107

NCBI 1000 Genomes Browser:

rs28942107

Allele Frequency:

0.00001(A)

Molecular consequence:

NM_000271.4:c.3104C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110333	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	no assertion criteria provided	Pathogenic (Jul 2, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000110333

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

no assertion criteria provided

Pathogenic
(Jul 2, 2012)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	119	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000110333.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing (GTR000501747)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing	PubMed (1)
3	not provided	0	not provided	not provided	clinical testing	PubMed (1)
4	not provided	0	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	119	not provided	not provided	(GTR000501747)	2	not provided	not provided	not provided
2	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
3	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
4	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Feb 13, 2018

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