NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 21, 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:
RCV002338955.2

Allele description [Variation Report for NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)]

NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)

Gene:
ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
HGVS:
  • NC_000009.12:g.104816339G>A
  • NG_007981.1:g.116817C>T
  • NM_005502.4:c.3542C>TMANE SELECT
  • NP_005493.2:p.Ser1181Phe
  • LRG_542t1:c.3542C>T
  • LRG_542:g.116817C>T
  • LRG_542p1:p.Ser1181Phe
  • NC_000009.11:g.107578620G>A
  • NM_005502.3:c.3542C>T
  • O95477:p.Ser1181Phe
Protein change:
S1181F
Links:
UniProtKB: O95477#VAR_017016; dbSNP: rs76881554
NCBI 1000 Genomes Browser:
rs76881554
Molecular consequence:
  • NM_005502.4:c.3542C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002619183Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Oct 21, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH.

Science. 2004 Aug 6;305(5685):869-72.

PubMed [citation]
PMID:
15297675

Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.

Candini C, Schimmel AW, Peter J, Bochem AE, Holleboom AG, Vergeer M, Dullaart RP, Dallinga-Thie GM, Hovingh GK, Khoo KL, Fasano T, Bocchi L, Calandra S, Kuivenhoven JA, Motazacker MM.

Atherosclerosis. 2010 Dec;213(2):492-8. doi: 10.1016/j.atherosclerosis.2010.08.062. Epub 2010 Aug 26.

PubMed [citation]
PMID:
20880529
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002619183.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024