NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) AND Hypertrophic cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 7, 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:: RCV000473533.10

Allele description [Variation Report for NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])]

NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])

HGVS:

NC_000014.9:g.23420202CTCCAGCTCCTC[3]
NG_007884.1:g.20438AGGAGCTGGAGG[3]
NM_000257.4:c.3347AGGAGCTGGAGG[3]MANE SELECT
NP_000248.2:p.1116EELE[3]
LRG_384t1:c.3359_3370dup
LRG_384:g.20438AGGAGCTGGAGG[3]
NC_000014.8:g.23889409_23889410insCCTCCAGCTCCT
NC_000014.8:g.23889411CTCCAGCTCCTC[3]
NM_000257.2:c.3359_3370dupAGGAGCTGGAGG
NM_000257.3:c.3359_3370dup
NM_000257.3:c.3359_3370dup12

Links:

dbSNP: rs1064792935

NCBI 1000 Genomes Browser:

rs1064792935

Molecular consequence:

NM_000257.4:c.3347AGGAGCTGGAGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000546260	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jan 7, 2020)	germline	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

SCV000546260

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jan 7, 2020)

germline

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000546260.7

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

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with MYH7-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 407195). This variant is not present in population databases (ExAC no frequency). This variant, c.3359_3370dup, results in the insertion of 4 amino acid(s) to the MYH7 protein (p.Glu1120_Glu1123dup), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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