NM_020297.4(ABCC9):c.4512+691_4512+701del AND Dilated cardiomyopathy 1O

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 18, 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:: RCV001947505.4

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+691_4512+701del]

NM_020297.4(ABCC9):c.4512+691_4512+701del

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.4512+691_4512+701del

HGVS:

NC_000012.12:g.21805297_21805307del
NG_012819.1:g.136388_136398del
NM_001377273.1:c.4512+691_4512+701del
NM_001377274.1:c.3645+691_3645+701del
NM_005691.4:c.4517_4527del
NM_020297.4:c.4512+691_4512+701delMANE SELECT
NP_005682.2:p.Arg1506fs
LRG_377:g.136388_136398del
NC_000012.11:g.21958231_21958241del

Protein change:

R1506fs

Links:

dbSNP: rs1272651352

NCBI 1000 Genomes Browser:

rs1272651352

Molecular consequence:

NM_005691.4:c.4517_4527del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377273.1:c.4512+691_4512+701del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.3645+691_3645+701del - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.4512+691_4512+701del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Dilated cardiomyopathy 1O (CMD1O)
Synonyms:: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Identifiers:: MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002129048	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 18, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32969603, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002129048

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 18, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.

Carnevale A, Rosas-Madrigal S, Rosendo-Gutiérrez R, López-Mora E, Romero-Hidalgo S, Avila-Vazzini N, Jacobo-Albavera L, Domínguez-Pérez M, Vargas-Alarcón G, Pérez-Villatoro F, Navarrete-Martínez JI, Villarreal-Molina MT.

Mol Genet Genomic Med. 2020 Nov;8(11):e1504. doi: 10.1002/mgg3.1504. Epub 2020 Sep 24.

PubMed [citation]

PMID:: 32969603
PMCID:: PMC7667365

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002129048.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 32969603). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg1506Hisfs*12) in the ABCC9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acid(s) of the ABCC9 protein.

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

Last Updated: Sep 29, 2024

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