NM_000117.3(EMD):c.410A>G (p.Asp137Gly) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 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:: RCV004520491.1

Allele description [Variation Report for NM_000117.3(EMD):c.410A>G (p.Asp137Gly)]

NM_000117.3(EMD):c.410A>G (p.Asp137Gly)

Gene:

EMD:emerin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000117.3(EMD):c.410A>G (p.Asp137Gly)

HGVS:

NC_000023.11:g.154380763A>G
NG_008677.1:g.11328A>G
NM_000117.3:c.410A>GMANE SELECT
NP_000108.1:p.Asp137Gly
NP_000108.1:p.Asp137Gly
LRG_745t1:c.410A>G
LRG_745:g.11328A>G
LRG_745p1:p.Asp137Gly
NC_000023.10:g.153609123A>G
NM_000117.2:c.410A>G

Protein change:

D137G

Molecular consequence:

NM_000117.3:c.410A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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thioesterase family protein [Pseudomonas khazarica]
thioesterase family protein [Pseudomonas khazarica]
gi|2024875978|gnl|PRJNA692848|JLK41 0|gb|QTS87037.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005032370	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 15, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005032370

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 15, 2024)

germline

clinical testing

Citation Link

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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, SCV005032370.1

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

Description

The p.D137G variant (also known as c.410A>G), located in coding exon 5 of the EMD gene, results from an A to G substitution at nucleotide position 410. The aspartic acid at codon 137 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, 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 7, 2024

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