NM_000257.4(MYH7):c.2266T>C (p.Tyr756His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 9, 2020
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:: RCV002443819.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2266T>C (p.Tyr756His)]

NM_000257.4(MYH7):c.2266T>C (p.Tyr756His)

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.2266T>C (p.Tyr756His)

HGVS:

NC_000014.9:g.23425715A>G
NG_007884.1:g.14947T>C
NM_000257.4:c.2266T>CMANE SELECT
NM_001407004.1:c.2266T>C
NP_000248.2:p.Tyr756His
NP_000248.2:p.Tyr756His
NP_001393933.1:p.Tyr756His
LRG_384t1:c.2266T>C
LRG_384:g.14947T>C
LRG_384p1:p.Tyr756His
NC_000014.8:g.23894924A>G
NM_000257.2:c.2266T>C

Protein change:

Y756H

Molecular consequence:

NM_000257.4:c.2266T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407004.1:c.2266T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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MAG: arsenate reductase [Chloroflexi bacterium RBG_13_51_18]
MAG: arsenate reductase [Chloroflexi bacterium RBG_13_51_18]
gi|1084539078|gb|OGN99488.1||gnl|WG R|A2Y89_04365

Protein
MAG: phosphate ABC transporter permease subunit PstC [Chloroflexi bacterium RBG_...
MAG: phosphate ABC transporter permease subunit PstC [Chloroflexi bacterium RBG_13_51_18]
gi|1084539081|gb|OGN99491.1||gnl|WG R|A2Y89_04350

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002736597	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 9, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002736597

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 9, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002736597.2

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

Description

The p.Y756H variant (also known as c.2266T>C), located in coding exon 18 of the MYH7 gene, results from a T to C substitution at nucleotide position 2266. The tyrosine at codon 756 is replaced by histidine, an amino acid with similar properties, and is located in the head (motor) domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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