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NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 25, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000171852.3

Allele description [Variation Report for NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln)]

NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln)

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.2813G>A (p.Arg938Gln)
HGVS:
  • NC_000012.12:g.21848203C>T
  • NG_012819.1:g.93492G>A
  • NM_001377273.1:c.2813G>A
  • NM_001377274.1:c.1946G>A
  • NM_005691.4:c.2813G>A
  • NM_020297.4:c.2813G>AMANE SELECT
  • NP_001364202.1:p.Arg938Gln
  • NP_001364203.1:p.Arg649Gln
  • NP_005682.2:p.Arg938Gln
  • NP_064693.2:p.Arg938Gln
  • LRG_377t1:c.2813G>A
  • LRG_377t2:c.2813G>A
  • LRG_377:g.93492G>A
  • NC_000012.11:g.22001137C>T
  • NM_005691.2:c.2813G>A
  • NM_020297.2:c.2813G>A
Protein change:
R649Q
Links:
dbSNP: rs201838439
NCBI 1000 Genomes Browser:
rs201838439
Molecular consequence:
  • NM_001377273.1:c.2813G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377274.1:c.1946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005691.4:c.2813G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020297.4:c.2813G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000050873Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))		Uncertain significance
(Jun 24, 2013) 		unknownresearch

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

SCV000583138GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 25, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknown1not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000050873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000583138.4

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

Description

A variant of uncertain significance has been identified in the ABCC9 gene. The R938Q variant has not been published as pathogenic or been reported as benign to our knowledge, but has been reported as a variant of uncertain significance in one individual from a cohort of individuals who underwent whole exome sequencing who were not selected for arrhythmia, cardiomyopathy, or family history of sudden cardiac death (Ng et al., 2013). The R938Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R938Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with ABCC9-related disorders (Stenson et al., 2014).

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

Last Updated: May 7, 2024