NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) AND Hypertrophic cardiomyopathy 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 22, 2019
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:: RCV000015185.28

Allele description [Variation Report for NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)]

NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)

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.2717A>G (p.Asp906Gly)

Other names:

NM_000257.3(MYH7):c.2717A>G

HGVS:

NC_000014.9:g.23424112T>C
NG_007884.1:g.16550A>G
NM_000257.4:c.2717A>GMANE SELECT
NP_000248.2:p.Asp906Gly
LRG_384t1:c.2717A>G
LRG_384:g.16550A>G
NC_000014.8:g.23893321T>C
NM_000257.2:c.2717A>G
NM_000257.3:c.2717A>G
P12883:p.Asp906Gly
c.2717A>G

Protein change:

D906G; ASP906GLY

Links:

UniProtKB: P12883#VAR_042814; OMIM: 160760.0039; dbSNP: rs267606908

NCBI 1000 Genomes Browser:

rs267606908

Molecular consequence:

NM_000257.4:c.2717A>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035442	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2005)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16267253, 12081993
SCV000993573	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI GT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 22, 2019)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035442

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2005)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000993573

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI GT

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 22, 2019)

unknown

research

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	unknown	unknown	3	not provided	not provided	3	not provided	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Gene mutations in apical hypertrophic cardiomyopathy.

Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.

Circulation. 2005 Nov 1;112(18):2805-11.

PubMed [citation]

PMID:: 16267253

Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.

Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD.

Circulation. 2002 Jun 25;105(25):2992-7.

PubMed [citation]

PMID:: 12081993

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035442.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 2 sibs with hypertrophic cardiomyopathy-1 (CMH1; 192600), Arad et al. (2005) identified heterozygosity for an asp906-to-gly (D906G) substitution in the MYH7 gene. The proband had apical hypertrophy, whereas the sib, who had sudden death at 45 years of age, was found on necropsy to have massive asymmetrical left ventricular hypertrophy with an interventricular septal thickness greater than 30 mm and a posterior left ventricular wall that was 18 mm thick. Arad et al. (2005) noted that the D906G mutation had previously been identified by Ho et al. (2002) in 22 affected members of a CMH family with a range of maximum left ventricular wall thickness of 13 to 29 mm; none had apical hypertrophy.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI GT, SCV000993573.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)
2	not provided	1	not provided	not provided	research	PubMed (1)
3	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	1	not provided	not provided		1	not provided	not provided	not provided
2	unknown	unknown	1	not provided	not provided		1	not provided	not provided	not provided
3	unknown	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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