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NC_000001.10:g.(?_236849954)_(237205889_?)dup AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2017
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:
RCV000543238.1

Allele description [Variation Report for NC_000001.10:g.(?_236849954)_(237205889_?)dup]

NC_000001.10:g.(?_236849954)_(237205889_?)dup

Genes:
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • LOC129932885:ATAC-STARR-seq lymphoblastoid active region 2826 [Gene]
  • LOC129932886:ATAC-STARR-seq lymphoblastoid active region 2827 [Gene]
  • LOC129388791:MPRA-validated peak789 silencer [Gene]
  • LOC122152347:Sharpr-MPRA regulatory region 3741 [Gene]
  • LOC110121264:VISTA enhancer hs2135 [Gene]
  • LOC110121265:VISTA enhancer hs2137 [Gene]
  • LOC110121266:VISTA enhancer hs2138 [Gene]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NC_000001.10:g.(?_236849954)_(237205889_?)dup
HGVS:
NC_000001.10:g.(?_236849954)_(237205889_?)dup

Condition(s)

Name:
Dilated cardiomyopathy 1AA (CMD1AA)
Synonyms:
CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
Identifiers:
MONDO: MONDO:0012808; MedGen: C2677338; Orphanet: 154; OMIM: 612158
Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000636924Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 1, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Invitae, SCV000636924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

A gross duplication of the genomic region encompassing the full coding sequence of the ACTN2 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with an ACTN2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ACTN2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 14, 2023