NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 9, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000158117.5

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208052	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 9, 2023)	germline	clinical testing	Citation Link,
SCV002501864	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 21, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24793961, 31568572, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208052

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 9, 2023)

germline

clinical testing

Citation Link,

SCV002501864

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 21, 2022)

germline

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	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR, Ackerman MJ.

Mayo Clin Proc. 2014 Jun;89(6):727-37. doi: 10.1016/j.mayocp.2014.01.025. Epub 2014 May 1.

PubMed [citation]

PMID:: 24793961
PMCID:: PMC4234122

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

Kühnisch J, Herbst C, Al-Wakeel-Marquard N, Dartsch J, Holtgrewe M, Baban A, Mearini G, Hardt J, Kolokotronis K, Gerull B, Carrier L, Beule D, Schubert S, Messroghli D, Degener F, Berger F, Klaassen S.

Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22.

PubMed [citation]

PMID:: 31568572

See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000208052.12

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

Description

Identified in patients with HCM or LVNC in published literature (PMID: 34540771, 24793961, 31568572, 31333075); Identified in a fetal sample from a consanguineous couple with CNS anomalies including agenesis of corpus collosum, hygroma colli, interhemispheric cyst, abnormal skull shape, and hypertelorism (PMID: 34611884); this variant was considered an incidental finding in this case.; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 31568572, 31333075, 36264615, 24793961, 34611884, 34540771)

#	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

From AiLife Diagnostics, AiLife Diagnostics, SCV002501864.1

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

#	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		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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