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NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 8, 2020
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:
RCV002392900.5

Allele description [Variation Report for NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)]

NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)

Gene:
ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
HGVS:
  • NC_000002.12:g.43875163G>A
  • NG_008884.2:g.48222G>A
  • NM_001357321.2:c.1503G>A
  • NM_022437.3:c.1506G>AMANE SELECT
  • NP_001344250.1:p.Pro501=
  • NP_071882.1:p.Pro502=
  • LRG_1182t1:c.1506G>A
  • LRG_1182:g.48222G>A
  • LRG_1182p1:p.Pro502=
  • NC_000002.11:g.44102302G>A
  • NG_008884.1:g.41200G>A
  • NM_022437.2:c.1506G>A
Links:
dbSNP: rs145756111
NCBI 1000 Genomes Browser:
rs145756111
Molecular consequence:
  • NM_001357321.2:c.1503G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022437.3:c.1506G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002700606Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Benign
(Jul 8, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Service SK, Teslovich TM, Fuchsberger C, Ramensky V, Yajnik P, Koboldt DC, Larson DE, Zhang Q, Lin L, Welch R, Ding L, McLellan MD, O'Laughlin M, Fronick C, Fulton LL, Magrini V, Swift A, Elliott P, Jarvelin MR, Kaakinen M, McCarthy MI, Peltonen L, et al.

PLoS Genet. 2014 Jan;10(1):e1004147. doi: 10.1371/journal.pgen.1004147.

PubMed [citation]
PMID:
24497850
PMCID:
PMC3907339

Details of each submission

From Ambry Genetics, SCV002700606.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This alteration is classified as 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: Sep 29, 2024