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NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 22, 2024
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:
RCV000470355.13

Allele description

NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)

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.1484C>T (p.Thr495Met)
HGVS:
  • NC_000001.11:g.236747744C>T
  • NG_009081.2:g.88604C>T
  • NM_001103.4:c.1484C>TMANE SELECT
  • NM_001278343.2:c.1484C>T
  • NM_001278344.2:c.860C>T
  • NP_001094.1:p.Thr495Met
  • NP_001094.1:p.Thr495Met
  • NP_001265272.1:p.Thr495Met
  • NP_001265273.1:p.Thr287Met
  • LRG_436t1:c.1484C>T
  • LRG_436:g.88604C>T
  • LRG_436p1:p.Thr495Met
  • NC_000001.10:g.236911044C>T
  • NG_009081.1:g.66275C>T
  • NM_001103.2:c.1484C>T
  • NM_001103.3:c.1484C>T
  • P35609:p.Thr495Met
  • c.1484C>T
Protein change:
T287M; THR495MET
Links:
UniProtKB: P35609#VAR_071971; OMIM: 102573.0003; dbSNP: rs200248944
NCBI 1000 Genomes Browser:
rs200248944
Molecular consequence:
  • NM_001103.4:c.1484C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278343.2:c.1484C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278344.2:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000553751Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 22, 2024) 		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, SCV000553751.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024