NM_000257.4(MYH7):c.3296C>T (p.Ala1099Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 2022
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:: RCV003129060.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3296C>T (p.Ala1099Val)]

NM_000257.4(MYH7):c.3296C>T (p.Ala1099Val)

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.3296C>T (p.Ala1099Val)

HGVS:

NC_000014.9:g.23420998G>A
NG_007884.1:g.19664C>T
NM_000257.4:c.3296C>TMANE SELECT
NM_001407004.1:c.3296C>T
NP_000248.2:p.Ala1099Val
NP_000248.2:p.Ala1099Val
NP_001393933.1:p.Ala1099Val
LRG_384t1:c.3296C>T
LRG_384:g.19664C>T
LRG_384p1:p.Ala1099Val
NC_000014.8:g.23890207G>A
NM_000257.2:c.3296C>T

Protein change:

A1099V

Molecular consequence:

NM_000257.4:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407004.1:c.3296C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Paraneoplastic Syndromes, Nervous System
Paraneoplastic Syndromes, Nervous System
Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumo...<br/>Year introduced: 2000

MeSH
Malonyl Coenzyme A
Malonyl Coenzyme A
A coenzyme A derivative which plays a key role in the fatty acid synthesis in the cytoplasmic and microsomal systems.<br/>Year introduced: 1991(1978)

MeSH
VCX2 variable charge X-linked 2 [Homo sapiens]
VCX2 variable charge X-linked 2 [Homo sapiens]
Gene ID:51480

Gene
Gene Links for GEO Profiles (Select 132438437) (1)
Gene
BioProject Links for Protein (Select 1176240786) (1)
BioProject

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003805186	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003805186

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 18, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003805186.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Mar 4, 2023

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