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NM_001103.4(ACTN2):c.2527-1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 4, 2012
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:
RCV000183254.1

Allele description [Variation Report for NM_001103.4(ACTN2):c.2527-1G>A]

NM_001103.4(ACTN2):c.2527-1G>A

Gene:
ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001103.4(ACTN2):c.2527-1G>A
HGVS:
  • NC_000001.11:g.236762460G>A
  • NG_009081.2:g.103320G>A
  • NM_001103.4:c.2527-1G>AMANE SELECT
  • NM_001278343.2:c.2527-1G>A
  • LRG_436t1:c.2527-1G>A
  • LRG_436:g.103320G>A
  • NC_000001.10:g.236925760G>A
  • NM_001103.2:c.2527-1G>A
Links:
dbSNP: rs794728966
NCBI 1000 Genomes Browser:
rs794728966
Molecular consequence:
  • NM_001103.4:c.2527-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278343.2:c.2527-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235680GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 4, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000235680.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Although the c.2527-1 G>A mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 20 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In summary, c.2527-1 G>A in the ACTN2 gene is interpreted as a disease-causing mutation. The variant is found in DCM panel(s).

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

Last Updated: Jun 10, 2023