NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr) AND Primary familial dilated cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 16, 2020
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:: RCV001195116.1

Allele description [Variation Report for NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)]

NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)

Genes:

P2RX5-TAX1BP3:P2RX5-TAX1BP3 readthrough (NMD candidate) [Gene - HGNC]
TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)

HGVS:

NC_000017.11:g.3664199A>G
NG_012489.2:g.32732A>G
NG_053154.1:g.9481T>C
NM_001204698.2:c.160-314T>C
NM_014604.4:c.233T>CMANE SELECT
NP_055419.1:p.Met78Thr
NC_000017.10:g.3567493A>G
NM_014604.2:c.233T>C
NR_037928.1:n.5288T>C

Protein change:

M78T

Links:

dbSNP: rs1307997067

NCBI 1000 Genomes Browser:

rs1307997067

Molecular consequence:

NM_001204698.2:c.160-314T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_014604.4:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037928.1:n.5288T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Primary familial dilated cardiomyopathy (FDC)
Synonyms:: Familial dilated cardiomyopathy; Hypokinetic dilated cardiomyopathy, familial
Identifiers:: MONDO: MONDO:0016333; MedGen: C0340427; Orphanet: 217607; OMIM: PS115200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334127	Department of Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 16, 2020)	inherited	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25741868, 25645515, 32576985

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334127

Department of Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 16, 2020)

inherited

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	2	1	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

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.

Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak L, Bengal T, Cohen L, Gaton DD, Bormans C, Landau M, Kornowski R, Shohat M, Behar DM.

Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16.

PubMed [citation]

PMID:: 25645515

See all PubMed Citations (3)

Details of each submission

From Department of Molecular and Human Genetics, Baylor College of Medicine, SCV001334127.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (3)

Description

"238 Kb deletion encompassing the entire TAX1BP3"

PubMed [ID: 25645515]

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: Oct 18, 2025

ClinVar

Relating variation to medicine