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NM_020297.4(ABCC9):c.1743G>A (p.Leu581=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 8, 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:
RCV002400166.9

Allele description [Variation Report for NM_020297.4(ABCC9):c.1743G>A (p.Leu581=)]

NM_020297.4(ABCC9):c.1743G>A (p.Leu581=)

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.1743G>A (p.Leu581=)
HGVS:
  • NC_000012.12:g.21894091C>T
  • NG_012819.1:g.47604G>A
  • NM_001377273.1:c.1743G>A
  • NM_001377274.1:c.879G>A
  • NM_005691.4:c.1743G>A
  • NM_020297.4:c.1743G>AMANE SELECT
  • NP_001364202.1:p.Leu581=
  • NP_001364203.1:p.Leu293=
  • NP_005682.2:p.Leu581=
  • NP_064693.2:p.Leu581=
  • LRG_377t2:c.1743G>A
  • LRG_377:g.47604G>A
  • NC_000012.11:g.22047025C>T
  • NC_000012.11:g.22047025C>T
  • NM_005691.2:c.1743G>A
  • NM_005691.3:c.1743G>A
Links:
dbSNP: rs777049470
NCBI 1000 Genomes Browser:
rs777049470
Molecular consequence:
  • NM_001377273.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377274.1:c.879G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005691.4:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020297.4:c.1743G>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
SCV002711347Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 8, 2022) 		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, SCV002711347.2

#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: Nov 3, 2024