NM_000257.4(MYH7):c.4960del (p.Gln1654fs) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 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:: RCV002342798.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4960del (p.Gln1654fs)]

NM_000257.4(MYH7):c.4960del (p.Gln1654fs)

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:

Deletion

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4960del (p.Gln1654fs)

HGVS:

NC_000014.9:g.23415828del
NG_007884.1:g.24836del
NG_086395.1:g.683del
NM_000257.4:c.4960delMANE SELECT
NM_001407004.1:c.4958delC
NP_000248.2:p.Gln1654Argfs
NP_000248.2:p.Gln1654fs
NP_001393933.1:p.Gln1654Argfs
LRG_384t1:c.4958del
LRG_384:g.24836del
LRG_384p1:p.Gln1654Argfs
NC_000014.8:g.23885037del
NM_000257.2:c.4958delC
NM_000257.4:c.4960delCMANE SELECT
NR_126491.1:n.260del

Protein change:

Q1654fs

Molecular consequence:

NM_000257.4:c.4960del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407004.1:c.4958delC - frameshift variant - [Sequence Ontology: SO:0001589]
NR_126491.1:n.260del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002642128	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 22, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002642128

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002642128.2

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

Description

The c.4960delC variant, located in coding exon 33 of the MYH7 gene, results from a deletion of one nucleotide at nucleotide position 4960, causing a translational frameshift with a predicted alternate stop codon (p.Q1654Rfs*14). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYH7 has not been clearly established as a mechanism of disease. 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 1, 2024

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