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NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile) AND Hypertrophic cardiomyopathy 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 31, 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:
RCV003324112.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile)]

NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.2282C>T (p.Thr761Ile)
HGVS:
  • NC_000014.9:g.23425699G>A
  • NG_007884.1:g.14963C>T
  • NG_086396.1:g.1400G>A
  • NM_000257.4:c.2282C>TMANE SELECT
  • NM_001407004.1:c.2282C>T
  • NP_000248.2:p.Thr761Ile
  • NP_000248.2:p.Thr761Ile
  • NP_001393933.1:p.Thr761Ile
  • LRG_384t1:c.2282C>T
  • LRG_384:g.14963C>T
  • LRG_384p1:p.Thr761Ile
  • NC_000014.8:g.23894908G>A
  • NM_000257.2:c.2282C>T
Protein change:
T761I
Molecular consequence:
  • NM_000257.4:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407004.1:c.2282C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004028509Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 31, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Russiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, et al.

Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4.

PubMed [citation]
PMID:
29300372
PMCID:
PMC5876064

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 Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV004028509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Russian1not providednot providedclinical testing PubMed (2)

Description

We found heterozygous variant NM_000257.4:c.2282C>T (p.Thr761Ile) in MYH7 gene during cascade genetic testing of the family members with HCM. This variant was first detected in proband (F., 50 y.o., HCM) using the target panel (MYBPC3, MYH7, TNNI3, TNNT2, MYL2) in other genetic laboratory (http://www.cgmc-psl.fr) and interpreted as Likely Pathogenic (Class IV). We confirmed this variant in proband's sister (60 y.o., HCM) and her daughter (34 y.o., HCM). The variant c.2282C>T is absent in The Genome Aggregation Database (gnomAD) (Date of access: 31-07-2023). This variant has not been reported in any study to our knowledge. In accordance with «Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel» criteria this variant is classified as a pathogenic variant with the following criteria selected: PM1, PM2, PP1_Supporting, PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 3, 2023