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NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 6, 2016
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:
RCV000487267.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala)]

NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala)

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.3637T>G (p.Ser1213Ala)
HGVS:
  • NC_000012.12:g.21828990A>C
  • NG_012819.1:g.112705T>G
  • NM_001377273.1:c.3637T>G
  • NM_001377274.1:c.2770T>G
  • NM_005691.4:c.3637T>G
  • NM_020297.4:c.3637T>GMANE SELECT
  • NP_001364202.1:p.Ser1213Ala
  • NP_001364203.1:p.Ser924Ala
  • NP_005682.2:p.Ser1213Ala
  • NP_064693.2:p.Ser1213Ala
  • LRG_377t1:c.3637T>G
  • LRG_377:g.112705T>G
  • NC_000012.11:g.21981924A>C
  • NM_020297.2:c.3637T>G
Protein change:
S1213A
Links:
dbSNP: rs1064794779
NCBI 1000 Genomes Browser:
rs1064794779
Molecular consequence:
  • NM_001377273.1:c.3637T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377274.1:c.2770T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005691.4:c.3637T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020297.4:c.3637T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569929GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Apr 6, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569929.4

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

Description

The S1213A variant in the ABCC9 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S1213A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, and occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The S1213A variant is a strong candidate for a pathogenic variant.

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

Last Updated: Apr 23, 2022