NM_000257.4(MYH7):c.2821C>A (p.Arg941Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2024
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:: RCV004649156.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2821C>A (p.Arg941Ser)]

NM_000257.4(MYH7):c.2821C>A (p.Arg941Ser)

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.2821C>A (p.Arg941Ser)

HGVS:

NC_000014.9:g.23424008G>T
NG_007884.1:g.16654C>A
NM_000257.4:c.2821C>AMANE SELECT
NP_000248.2:p.Arg941Ser
LRG_384:g.16654C>A
NC_000014.8:g.23893217G>T
NM_000257.3:c.2821C>A

Protein change:

R941S

Links:

dbSNP: rs750435648

NCBI 1000 Genomes Browser:

rs750435648

Molecular consequence:

NM_000257.4:c.2821C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Larimus fasciatus voucher USNM:FISH:416752 small subunit ribosomal RNA gene, par...
Larimus fasciatus voucher USNM:FISH:416752 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2282139996|gb|OP151348.1|

Nucleotide
Larimus fasciatus isolate 11625 rhodopsin (rh1) gene, partial cds
Larimus fasciatus isolate 11625 rhodopsin (rh1) gene, partial cds
gi|1967464708|gb|MT879942.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005143088	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 10, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005143088

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 10, 2024)

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, SCV005143088.1

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

Description

The p.R941S variant (also known as c.2821C>A), located in coding exon 21 of the MYH7 gene, results from a C to A substitution at nucleotide position 2821. The arginine at codon 941 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant 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: Aug 11, 2024

ClinVar

Relating variation to medicine