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NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 2024
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:
RCV004065244.1

Allele description [Variation Report for NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr)]

NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr)

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.1679T>C (p.Ile560Thr)
HGVS:
  • NC_000009.12:g.104831658A>G
  • NG_007981.1:g.101498T>C
  • NM_005502.3:c.1679T>C
  • NM_005502.4:c.1679T>CMANE SELECT
  • NP_005493.2:p.Ile560Thr
  • LRG_542t1:c.1679T>C
  • LRG_542:g.101498T>C
  • LRG_542p1:p.Ile560Thr
  • NC_000009.11:g.107593939A>G
  • NM_005502.4:c.1679T>C
Protein change:
I560T
Molecular consequence:
  • NM_005502.4:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004849949Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 2, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004849949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1679T>C (p.I560T) alteration is located in exon 13 (coding exon 12) of the ABCA1 gene. This alteration results from a T to C substitution at nucleotide position 1679, causing the isoleucine (I) at amino acid position 560 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024