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NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2023
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:
RCV003797984.2

Allele description

NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)

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.16C>T (p.Pro6Ser)
HGVS:
  • NC_000001.11:g.236686689C>T
  • NG_009081.2:g.27549C>T
  • NM_001103.4:c.16C>TMANE SELECT
  • NM_001278343.2:c.16C>T
  • NM_001278344.2:c.-806C>T
  • NM_001412150.1:c.-931C>T
  • NP_001094.1:p.Pro6Ser
  • NP_001265272.1:p.Pro6Ser
  • LRG_436t1:c.16C>T
  • LRG_436:g.27549C>T
  • LRG_436p1:p.Pro6Ser
  • NC_000001.10:g.236849989C>T
  • NR_184402.1:n.191C>T
Protein change:
P6S
Molecular consequence:
  • NM_001103.4:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278343.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_184402.1:n.191C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004579569Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2023) 		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, SCV004579569.1

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

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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 6 of the ACTN2 protein (p.Pro6Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ACTN2-related conditions.

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

Last Updated: Jun 23, 2024