U.S. flag

An official website of the United States government

NM_001101648.2(NPC1L1):c.496G>A (p.Glu166Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 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:
RCV002818401.1

Allele description [Variation Report for NM_001101648.2(NPC1L1):c.496G>A (p.Glu166Lys)]

NM_001101648.2(NPC1L1):c.496G>A (p.Glu166Lys)

Gene:
NPC1L1:NPC1 like intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_001101648.2(NPC1L1):c.496G>A (p.Glu166Lys)
HGVS:
  • NC_000007.14:g.44539901C>T
  • NG_013088.1:g.6415G>A
  • NM_001101648.2:c.496G>AMANE SELECT
  • NM_001300967.2:c.496G>A
  • NM_013389.3:c.496G>A
  • NP_001095118.1:p.Glu166Lys
  • NP_001287896.1:p.Glu166Lys
  • NP_037521.2:p.Glu166Lys
  • NC_000007.13:g.44579500C>T
  • NM_013389.2:c.496G>A
Protein change:
E166K
Molecular consequence:
  • NM_001101648.2:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300967.2:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013389.3:c.496G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003613398Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 28, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003613398.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.496G>A (p.E166K) alteration is located in exon 2 (coding exon 2) of the NPC1L1 gene. This alteration results from a G to A substitution at nucleotide position 496, causing the glutamic acid (E) at amino acid position 166 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023