NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr) 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:: RCV000201493.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr)]

NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr)

Genes:

LOC126861898:BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 [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.2291T>A (p.Phe764Tyr)

HGVS:

NC_000014.9:g.23425414A>T
NG_007884.1:g.15248T>A
NM_000257.4:c.2291T>AMANE SELECT
NP_000248.2:p.Phe764Tyr
LRG_384t1:c.2291T>A
LRG_384:g.15248T>A
NC_000014.8:g.23894623A>T
NM_000257.2:c.2291T>A

Protein change:

F764Y

Links:

dbSNP: rs863225102

NCBI 1000 Genomes Browser:

rs863225102

Molecular consequence:

NM_000257.4:c.2291T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256150	Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)	criteria provided, single submitter (LGCM Criteria August 2015)	Likely pathogenic	germline	clinical testing	LGCM_Criteria_August_2015 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256150

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

criteria provided, single submitter

(LGCM Criteria August 2015)

Likely pathogenic

germline

clinical testing

LGCM_Criteria_August_2015

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256150.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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