U.S. flag

An official website of the United States government

NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 16, 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:
RCV002415726.2

Allele description [Variation Report for NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)]

NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)

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.1978C>T (p.Arg660Trp)
HGVS:
  • NC_000012.12:g.21882807G>A
  • NG_012819.1:g.58888C>T
  • NM_001377273.1:c.1978C>T
  • NM_001377274.1:c.1114C>T
  • NM_005691.4:c.1978C>T
  • NM_020297.4:c.1978C>TMANE SELECT
  • NP_001364202.1:p.Arg660Trp
  • NP_001364203.1:p.Arg372Trp
  • NP_005682.2:p.Arg660Trp
  • NP_005682.2:p.Arg660Trp
  • NP_064693.2:p.Arg660Trp
  • LRG_377t2:c.1978C>T
  • LRG_377:g.58888C>T
  • NC_000012.11:g.22035741G>A
  • NM_005691.2:c.1978C>T
  • NM_005691.3:c.1978C>T
Protein change:
R372W
Links:
dbSNP: rs760889253
NCBI 1000 Genomes Browser:
rs760889253
Molecular consequence:
  • NM_001377273.1:c.1978C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377274.1:c.1114C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005691.4:c.1978C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020297.4:c.1978C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On
  • Hepatectomy
    Hepatectomy
    Excision of all or part of the liver. (Dorland, 28th ed)<br/>
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002722884Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 16, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, et al.

Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23. Erratum in: Am J Hum Genet. 2019 Oct 3;105(4):879. doi: 10.1016/j.ajhg.2019.09.019.

PubMed [citation]
PMID:
31130284
PMCID:
PMC6562004

Details of each submission

From Ambry Genetics, SCV002722884.2

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

Description

The p.R660W variant (also known as c.1978C>T), located in coding exon 14 of the ABCC9 gene, results from a C to T substitution at nucleotide position 1978. The arginine at codon 660 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in an exome sequencing cohort (Monies D et al. Am J Hum Genet, 2019 06;104:1182-1201). This amino acid position is well 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