U.S. flag

An official website of the United States government

NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg) AND Tangier disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 1999
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:
RCV000010091.5

Allele description [Variation Report for NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)]

NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)

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.4429T>C (p.Cys1477Arg)
Other names:
C1417R
HGVS:
  • NC_000009.12:g.104806276A>G
  • NG_007981.1:g.126880T>C
  • NM_005502.3:c.4429T>C
  • NM_005502.4:c.4429T>CMANE SELECT
  • NP_005493.2:p.Cys1477Arg
  • LRG_542t1:c.4429T>C
  • LRG_542:g.126880T>C
  • LRG_542p1:p.Cys1477Arg
  • NC_000009.11:g.107568557A>G
  • O95477:p.Cys1477Arg
Protein change:
C1477R; CYS1417ARG
Links:
UniProtKB: O95477#VAR_009153; OMIM: 600046.0001; dbSNP: rs137854494
NCBI 1000 Genomes Browser:
rs137854494
Molecular consequence:
  • NM_005502.4:c.4429T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tangier disease (TGD)
Synonyms:
High density lipoprotein deficiency, type 1; High density lipoprotein deficiency, Tangier type; Analphalipo-proteinemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008783; MedGen: C0039292; Orphanet: 31150; OMIM: 205400

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
SCV000030312OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, et al.

Nat Genet. 1999 Aug;22(4):336-45.

PubMed [citation]
PMID:
10431236

Details of each submission

From OMIM, SCV000030312.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In the proband with Tangier disease (TGD; 205400) in a Dutch family, Brooks-Wilson et al. (1999) found compound heterozygosity for mutations in the ABC1 gene. One mutation was a T-to-C transition at nucleotide 4369 in exon 30, predicted to result in a cys1417-to-arg (C1417R) substitution. The other mutation was a G-to-C transversion in the splice donor site of exon 24 (600046.0002), predicted to cause alternative splicing and deletion of a significant part of the transcript.

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

Last Updated: Oct 13, 2024