NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) AND Left ventricular noncompaction cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000853169.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)]

NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)

Gene:

MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)

Other names:

p.T602I:ACC>ATC

HGVS:

NC_000011.10:g.47341230G>A
NG_007667.1:g.16473C>T
NM_000256.3:c.1805C>TMANE SELECT
NP_000247.2:p.Thr602Ile
LRG_386t1:c.1805C>T
LRG_386:g.16473C>T
LRG_386p1:p.Thr602Ile
NC_000011.9:g.47362781G>A

Protein change:

T602I

Links:

dbSNP: rs730880551

NCBI 1000 Genomes Browser:

rs730880551

Molecular consequence:

NM_000256.3:c.1805C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Left ventricular noncompaction cardiomyopathy
Identifiers:: MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995883	Klaassen Lab, Charite University Medicine Berlin	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	research	PubMed (4) [See all records that cite these PMIDs] 34540771, 25741868, 31568572, 31333075

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995883

Klaassen Lab, Charite University Medicine Berlin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

research

PubMed (4)
[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	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Schultze-Berndt A, Kühnisch J, Herbst C, Seidel F, Al-Wakeel-Marquard N, Dartsch J, Theisen S, Knirsch W, Jenni R, Greutmann M, Oechslin E, Berger F, Klaassen S.

Front Pediatr. 2021;9:722926. doi: 10.3389/fped.2021.722926.

PubMed [citation]

PMID:: 34540771
PMCID:: PMC8447880

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

See all PubMed Citations (4)

Details of each submission

From Klaassen Lab, Charite University Medicine Berlin, SCV000995883.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (4)

#	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: Sep 29, 2024

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