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NM_022437.3(ABCG8):c.36G>A (p.Pro12=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 24, 2019
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:
RCV002348088.2

Allele description [Variation Report for NM_022437.3(ABCG8):c.36G>A (p.Pro12=)]

NM_022437.3(ABCG8):c.36G>A (p.Pro12=)

Genes:
ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
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.36G>A (p.Pro12=)
HGVS:
  • NC_000002.12:g.43839089G>A
  • NG_008883.1:g.4731C>T
  • NG_008884.2:g.12148G>A
  • NM_001357321.2:c.36G>A
  • NM_022437.3:c.36G>AMANE SELECT
  • NP_001344250.1:p.Pro12=
  • NP_071882.1:p.Pro12=
  • LRG_1182t1:c.36G>A
  • LRG_1181:g.4731C>T
  • LRG_1182:g.12148G>A
  • LRG_1182p1:p.Pro12=
  • NC_000002.11:g.44066228G>A
  • NG_008884.1:g.5126G>A
  • NM_022437.2:c.36G>A
Links:
dbSNP: rs368998235
NCBI 1000 Genomes Browser:
rs368998235
Molecular consequence:
  • NM_001357321.2:c.36G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022437.3:c.36G>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
SCV002622938Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 24, 2019) 		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, SCV002622938.2

#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: Oct 13, 2024