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NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 19, 2021
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:
RCV002450856.1

Allele description

NM_020297.4(ABCC9):c.366T>C (p.Tyr122=)

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.366T>C (p.Tyr122=)
HGVS:
  • NC_000012.12:g.21925982A>G
  • NG_012819.1:g.15713T>C
  • NM_001377273.1:c.366T>C
  • NM_001377274.1:c.-89T>C
  • NM_005691.4:c.366T>C
  • NM_020297.4:c.366T>CMANE SELECT
  • NP_001364202.1:p.Tyr122=
  • NP_005682.2:p.Tyr122=
  • NP_064693.2:p.Tyr122=
  • LRG_377t2:c.366T>C
  • LRG_377:g.15713T>C
  • NC_000012.11:g.22078916A>G
  • NM_005691.2:c.366T>C
Links:
dbSNP: rs886049174
NCBI 1000 Genomes Browser:
rs886049174
Molecular consequence:
  • NM_001377274.1:c.-89T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001377273.1:c.366T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005691.4:c.366T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020297.4:c.366T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002615720Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(May 19, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002615720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024