NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 22, 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:: RCV000247796.2

Allele description [Variation Report for NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)]

NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)

Gene:

MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)

HGVS:

NC_000014.9:g.23382532A>C
NG_023444.1:g.30746T>G
NM_002471.4:c.5692T>GMANE SELECT
NP_002462.2:p.Phe1898Val
NP_002462.2:p.Phe1898Val
LRG_389t1:c.5692T>G
LRG_389:g.30746T>G
LRG_389p1:p.Phe1898Val
NC_000014.8:g.23851741A>C
NM_002471.3:c.5692T>G

Protein change:

F1898V

Links:

dbSNP: rs762923098

NCBI 1000 Genomes Browser:

rs762923098

Molecular consequence:

NM_002471.4:c.5692T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318990	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (2/2020))	Uncertain significance (Apr 22, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318990

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (2/2020))

Uncertain significance
(Apr 22, 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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000318990.5

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

Description

The p.F1898V variant (also known as c.5692T>G), located in coding exon 36 of the MYH6 gene, results from a T to G substitution at nucleotide position 5692. The phenylalanine at codon 1898 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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