NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2023
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:: RCV001560660.6

Allele description [Variation Report for NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)]

NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)

Gene:

EMD:emerin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)

HGVS:

NC_000023.11:g.154379711AGA[2]
NG_008677.1:g.10276AGA[2]
NM_000117.3:c.104AGA[2]MANE SELECT
NP_000108.1:p.Lys37del
LRG_745t1:c.110_112del
LRG_745:g.10276AGA[2]
NC_000023.10:g.153608071AGA[2]
NC_000023.10:g.153608071_153608073del
NM_000117.2:c.110_112del
NM_000117.2:c.110_112delAGA
NM_000117.3:c.110_112delMANE SELECT

Protein change:

K37del

Links:

dbSNP: rs782507902

NCBI 1000 Genomes Browser:

rs782507902

Molecular consequence:

NM_000117.3:c.104AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001783117	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001783117

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 31, 2023)

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, SCV001783117.4

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

Description

In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Functional study suggests that this variant leads to impaired protein trafficking (PMID: 18266676); however, additional studies are needed to validate the functional effect of this variant in vivo; This variant is associated with the following publications: (PMID: 29540472, 18266676, 32880476, 31024910, 24365856, 36672271, 27960036, Tolmacheva 2023[preprint], 31185657, 17536044)

#	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: May 1, 2024

ClinVar

Relating variation to medicine