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NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 19, 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:
RCV002413671.9

Allele description [Variation Report for NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)]

NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)

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.1251G>A (p.Gln417=)
HGVS:
  • NC_000002.12:g.43823986C>T
  • NG_008883.1:g.19834G>A
  • NG_053008.1:g.54948C>T
  • NM_001348912.2:c.*16-3400C>T
  • NM_001348913.2:c.*16-3400C>T
  • NM_022436.3:c.1251G>AMANE SELECT
  • NP_071881.1:p.Gln417=
  • LRG_1181t1:c.1251G>A
  • LRG_1181:g.19834G>A
  • LRG_1181p1:p.Gln417=
  • NC_000002.11:g.44051125C>T
  • NM_022436.2:c.1251G>A
Links:
dbSNP: rs146801512
NCBI 1000 Genomes Browser:
rs146801512
Molecular consequence:
  • NM_001348912.2:c.*16-3400C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348913.2:c.*16-3400C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022436.3:c.1251G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002670045Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 19, 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, SCV002670045.2

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

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.

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

Last Updated: Jun 8, 2025