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NM_000257.4(MYH7):c.755T>G (p.Phe252Cys) AND Hypertrophic cardiomyopathy 1

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:
RCV000201463.2

Allele description [Variation Report for NM_000257.4(MYH7):c.755T>G (p.Phe252Cys)]

NM_000257.4(MYH7):c.755T>G (p.Phe252Cys)

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.755T>G (p.Phe252Cys)
HGVS:
  • NC_000014.9:g.23431459A>C
  • NG_007884.1:g.9203T>G
  • NM_000257.4:c.755T>GMANE SELECT
  • NP_000248.2:p.Phe252Cys
  • LRG_384t1:c.755T>G
  • LRG_384:g.9203T>G
  • NC_000014.8:g.23900668A>C
  • NM_000257.2:c.755T>G
Protein change:
F252C
Links:
dbSNP: rs727505202
NCBI 1000 Genomes Browser:
rs727505202
Molecular consequence:
  • NM_000257.4:c.755T>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256149Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)
criteria provided, single submitter

(LGCM Criteria August 2015)		Likely pathogenicgermlineclinical testing

LGCM_Criteria_August_2015

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256149.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024