NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 5, 2021
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:: RCV002490490.1

Allele description [Variation Report for NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)]

NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)

HGVS:

NC_000014.9:g.23415832C>A
NG_007884.1:g.24830G>T
NM_000257.4:c.4954G>TMANE SELECT
NP_000248.2:p.Asp1652Tyr
LRG_384t1:c.4954G>T
LRG_384:g.24830G>T
NC_000014.8:g.23885041C>A
NM_000257.2:c.4954G>T
NM_000257.3:c.4954G>T
c.4954G>T

Protein change:

D1652Y

Links:

dbSNP: rs397516233

NCBI 1000 Genomes Browser:

rs397516233

Molecular consequence:

NM_000257.4:c.4954G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Name:: Myopathy, myosin storage, autosomal recessive (CMYO7B)
Synonyms:: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0009708; MedGen: C1850709; OMIM: 255160

Name:: Myosin storage myopathy (CMYO7A)
Synonyms:: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358

Name:: Congenital myopathy with fiber type disproportion
Synonyms:: Congenital fiber-type disproportion myopathy; Congenital Fiber-Type Disproportion
Identifiers:: MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020

Name:: Dilated cardiomyopathy 1S (CMD1S)
Identifiers:: MONDO: MONDO:0013262; MedGen: C1834481; Orphanet: 154; Orphanet: 54260; OMIM: 613426

Name:: MYH7-related skeletal myopathy
Synonyms:: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500

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phosphoenolpyruvate carboxylase [Klebsiella variicola]
phosphoenolpyruvate carboxylase [Klebsiella variicola]
gi|635939955|gb|KDH20225.1||gnl|WGS |AE36_05118T0

Protein
soluble pyridine nucleotide transhydrogenase [Klebsiella variicola]
soluble pyridine nucleotide transhydrogenase [Klebsiella variicola]
gi|635939961|gb|KDH20231.1||gnl|WGS |AE36_05124T0

Protein
N-acetyl-gamma-glutamyl-phosphate reductase [Klebsiella variicola]
N-acetyl-gamma-glutamyl-phosphate reductase [Klebsiella variicola]
gi|635939957|gb|KDH20227.1||gnl|WGS |AE36_05120T0

Protein
PREDICTED: Homo sapiens zinc finger protein 300 (ZNF300), transcript variant X1,...
PREDICTED: Homo sapiens zinc finger protein 300 (ZNF300), transcript variant X1, mRNA
gi|2217357844|ref|XM_047417874.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002784028	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 5, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002784028

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 5, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV002784028.1

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

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

Last Updated: Nov 10, 2024

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