NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) AND Hypertrophic cardiomyopathy 1

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Apr 27, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000203136.13

Allele description [Variation Report for NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)]

NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)

Genes:

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.4472C>G (p.Ser1491Cys)

Other names:

p.S1491C:TCC>TGC; NM_000257.3(MYH7):c.4472C>G

HGVS:

NC_000014.9:g.23417200G>C
NG_007884.1:g.23462C>G
NM_000257.4:c.4472C>GMANE SELECT
NP_000248.2:p.Ser1491Cys
NP_000248.2:p.Ser1491Cys
LRG_384t1:c.4472C>G
LRG_384:g.23462C>G
LRG_384p1:p.Ser1491Cys
NC_000014.8:g.23886409G>C
NM_000257.2:c.4472C>G
NM_000257.3:c.4472C>G
P12883:p.Ser1491Cys
c.4472C>G

Protein change:

S1491C

Links:

UniProtKB: P12883#VAR_020819; dbSNP: rs3729823

NCBI 1000 Genomes Browser:

rs3729823

Molecular consequence:

NM_000257.4:c.4472C>G - 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

Recent activity

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rab-like protein 2B isoform 2 [Homo sapiens]
rab-like protein 2B isoform 2 [Homo sapiens]
gi|5902040|ref|NP_009012.1|

Protein
Homo sapiens ecotropic viral integration site 2A, mRNA (cDNA clone MGC:45142 IMA...
Homo sapiens ecotropic viral integration site 2A, mRNA (cDNA clone MGC:45142 IMAGE:5229926), complete cds
gi|23272679|gb|BC035572.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000257659	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Benign (Apr 12, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx, Citation Link,
SCV000385955	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000257659

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Benign
(Apr 12, 2015)

unknown

clinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV000385955

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

Citation Link

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000257659.2

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

From Illumina Laboratory Services, Illumina, SCV000385955.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Oct 13, 2024

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