NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 25, 2020
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:: RCV002446622.2

Allele description [Variation Report for NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)]

NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)

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.2320A>C (p.Thr774Pro)

HGVS:

NC_000009.12:g.104826965T>G
NG_007981.1:g.106191A>C
NM_005502.4:c.2320A>CMANE SELECT
NP_005493.2:p.Thr774Pro
LRG_542t1:c.2320A>C
LRG_542:g.106191A>C
LRG_542p1:p.Thr774Pro
NC_000009.11:g.107589246T>G
NM_005502.3:c.2320A>C
O95477:p.Thr774Pro

Protein change:

T774P

Links:

UniProtKB: O95477#VAR_012622; dbSNP: rs35819696

NCBI 1000 Genomes Browser:

rs35819696

Molecular consequence:

NM_005502.4:c.2320A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002733525	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 25, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002733525

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 25, 2020)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002733525.2

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

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.

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

Last Updated: Sep 29, 2024

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