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NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 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:
RCV003162174.9

Allele description [Variation Report for NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)]

NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)

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.547C>T (p.Arg183Ter)
HGVS:
  • NC_000002.12:g.43828070G>A
  • NG_008883.1:g.15750C>T
  • NG_008884.2:g.1129G>A
  • NG_053008.1:g.59032G>A
  • NM_001348912.2:c.*700G>A
  • NM_001348913.2:c.*700G>A
  • NM_022436.3:c.547C>TMANE SELECT
  • NP_071881.1:p.Arg183Ter
  • LRG_1181t1:c.547C>T
  • LRG_1181:g.15750C>T
  • LRG_1181p1:p.Arg183Ter
  • LRG_1182:g.1129G>A
  • NC_000002.11:g.44055209G>A
  • NM_022436.2:c.547C>T
Protein change:
R183*
Molecular consequence:
  • NM_001348912.2:c.*700G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001348913.2:c.*700G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_022436.3:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003854130Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 18, 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, SCV003854130.2

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

Description

The p.R183* pathogenic mutation (also known as c.547C>T), located in coding exon 5 of the ABCG5 gene, results from a C to T substitution at nucleotide position 547. This changes the amino acid from an arginine to a stop codon within coding exon 5. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Dec 7, 2024