NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 8, 2013
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:: RCV000155866.4

Allele description [Variation Report for NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys)]

NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys)

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.575G>A (p.Arg192Lys)

HGVS:

NC_000012.12:g.21915909C>T
NG_012819.1:g.25786G>A
NM_001377273.1:c.575G>A
NM_001377274.1:c.-48-2843G>A
NM_005691.4:c.575G>A
NM_020297.4:c.575G>AMANE SELECT
NP_001364202.1:p.Arg192Lys
NP_005682.2:p.Arg192Lys
NP_005682.2:p.Arg192Lys
NP_064693.2:p.Arg192Lys
LRG_377t2:c.575G>A
LRG_377:g.25786G>A
NC_000012.11:g.22068843C>T
NM_005691.2:c.575G>A
NM_005691.3:c.575G>A

Protein change:

R192K

Links:

dbSNP: rs727504612

NCBI 1000 Genomes Browser:

rs727504612

Molecular consequence:

NM_001377274.1:c.-48-2843G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377273.1:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005691.4:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020297.4:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000205577	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000205577

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 8, 2013)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205577.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The Arg192Lys variant in ABCC9 has not been reported in individuals with cardiom yopathy. Data from large population studies is insufficient to assess the freque ncy of the variant. Computational analyses (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg192Lys variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Of note, the variant amino acid Lysine (Lys) is present at this position in several fish species (tetraodon, fugu, stickleback, medaka a nd zebrafish). Additional information is needed to fully assess the clinical sig nificance of the Arg192Lys variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Nov 3, 2024

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