NM_000257.4(MYH7):c.732+1G>A AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 19, 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:: RCV000158758.9

Allele description [Variation Report for NM_000257.4(MYH7):c.732+1G>A]

NM_000257.4(MYH7):c.732+1G>A

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.732+1G>A

HGVS:

NC_000014.9:g.23431584C>T
NG_007884.1:g.9078G>A
NM_000257.4:c.732+1G>AMANE SELECT
NM_001407004.1:c.732+1G>A
LRG_384t1:c.732+1G>A
LRG_384:g.9078G>A
NC_000014.8:g.23900793C>T
NM_000257.2:c.732+1G>A
NM_000257.3:c.732+1G>A

Nucleotide change:

IVS8DS, G-A, +1

Links:

OMIM: 160760.0041; dbSNP: rs730880850

NCBI 1000 Genomes Browser:

rs730880850

Molecular consequence:

NM_000257.4:c.732+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407004.1:c.732+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Hemoglobins
Hemoglobins
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure di...<br/>Year introduced: 1975

MeSH
HTLV-I Infections
HTLV-I Infections
Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 1.<br/>Year introduced: 1989

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208693	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 19, 2024)	germline	clinical testing	Citation Link,
SCV001920278	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001957130	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001972097	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208693.11

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

Description

Reported in probands with Ebstein anomaly, including a fetus with additional features of left ventricular hypertrophy, dilation, and noncompaction (PMID: 35209905, 27788187); Not observed at significant frequency in large population cohorts (gnomAD); Predicted to cause exon skipping that would disrupt the myosin motor domain; however, in the absence of definitive functional studies, the actual effect of this sequence change is unknown; Canonical splice site variant expected to result in aberrant splicing; other splice site variants in the MYH7 gene have been reported in association with cardiomyopathy (HGMD); This variant is associated with the following publications: (PMID: 25525159, 29300372, 18506004, 21551322, 12749056, 22859017, 35209905, 27788187, 30847666, 34758253, 35877568, 33500567, 36292635, 23861362)

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001920278.1

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

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001957130.1

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

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972097.1

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

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

Last Updated: Nov 3, 2024

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