NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser) AND Arrhythmogenic right ventricular dysplasia 13

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 26, 2019
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:: RCV001809182.1

Allele description [Variation Report for NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser)]

NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser)

Gene:

CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser)

HGVS:

NC_000010.11:g.65920464C>A
NG_034072.1:g.1780728G>T
NM_001127384.3:c.2554G>T
NM_013266.4:c.2554G>TMANE SELECT
NP_001120856.1:p.Ala852Ser
NP_037398.2:p.Ala852Ser
NC_000010.10:g.67680222C>A
NM_013266.3:c.2554G>T

Protein change:

A852S

Links:

dbSNP: rs778712224

NCBI 1000 Genomes Browser:

rs778712224

Molecular consequence:

NM_001127384.3:c.2554G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013266.4:c.2554G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Arrhythmogenic right ventricular dysplasia 13
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; Arrhythmogenic right ventricular dysplasia, familial, 13
Identifiers:: MONDO: MONDO:0000908; MedGen: C3810138; OMIM: 615616

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059637	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 26, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002059637

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 26, 2019)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059637.1

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

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

Last Updated: Dec 24, 2023

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