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NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 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:
RCV002437046.2

Allele description [Variation Report for NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)]

NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)
HGVS:
  • NC_000012.12:g.21848198C>A
  • NG_012819.1:g.93497G>T
  • NM_001377273.1:c.2818G>T
  • NM_001377274.1:c.1951G>T
  • NM_005691.4:c.2818G>T
  • NM_020297.4:c.2818G>TMANE SELECT
  • NP_001364202.1:p.Ala940Ser
  • NP_001364203.1:p.Ala651Ser
  • NP_005682.2:p.Ala940Ser
  • NP_064693.2:p.Ala940Ser
  • LRG_377t2:c.2818G>T
  • LRG_377:g.93497G>T
  • NC_000012.11:g.22001132C>A
  • NM_005691.2:c.2818G>T
  • NM_005691.3:c.2818G>T
Protein change:
A651S
Links:
dbSNP: rs1373377020
NCBI 1000 Genomes Browser:
rs1373377020
Molecular consequence:
  • NM_001377273.1:c.2818G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377274.1:c.1951G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005691.4:c.2818G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020297.4:c.2818G>T - 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
SCV002749287Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 30, 2020) 		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, SCV002749287.2

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

Description

The p.A940S variant (also known as c.2818G>T), located in coding exon 23 of the ABCC9 gene, results from a G to T substitution at nucleotide position 2818. The alanine at codon 940 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024