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NM_022436.3(ABCG5):c.1153G>A (p.Ala385Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004418072.1

Allele description [Variation Report for NM_022436.3(ABCG5):c.1153G>A (p.Ala385Thr)]

NM_022436.3(ABCG5):c.1153G>A (p.Ala385Thr)

Genes:
ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_022436.3(ABCG5):c.1153G>A (p.Ala385Thr)
HGVS:
  • NC_000002.12:g.43824084C>T
  • NG_008883.1:g.19736G>A
  • NG_053008.1:g.55046C>T
  • NM_001348912.2:c.*16-3302C>T
  • NM_001348913.2:c.*16-3302C>T
  • NM_022436.3:c.1153G>AMANE SELECT
  • NP_071881.1:p.Ala385Thr
  • LRG_1181t1:c.1153G>A
  • LRG_1181:g.19736G>A
  • LRG_1181p1:p.Ala385Thr
  • NC_000002.11:g.44051223C>T
  • NM_022436.2:c.1153G>A
Protein change:
A385T
Molecular consequence:
  • NM_001348912.2:c.*16-3302C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348913.2:c.*16-3302C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022436.3:c.1153G>A - 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
SCV004909506Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 2022) 		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, SCV004909506.1

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

Description

The c.1153G>A (p.A385T) alteration is located in exon 9 (coding exon 9) of the ABCG5 gene. This alteration results from a G to A substitution at nucleotide position 1153, causing the alanine (A) at amino acid position 385 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: Nov 3, 2024