NM_001127453.2(GSDME):c.1258-2_1267del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 30, 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:: RCV001756763.2

Allele description [Variation Report for NM_001127453.2(GSDME):c.1258-2_1267del]

NM_001127453.2(GSDME):c.1258-2_1267del

Gene:

GSDME:gasdermin E [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p15.3

Genomic location:

Preferred name:

NM_001127453.2(GSDME):c.1258-2_1267del

HGVS:

NC_000007.14:g.24699252_24699263del
NG_011593.1:g.63760_63771del
NM_001127453.2:c.1258-2_1267delMANE SELECT
NM_001127454.2:c.766-2_775del
NM_004403.3:c.1258-2_1267del
LRG_1428t1:c.1258-2_1267del
LRG_1428:g.63760_63771del
NC_000007.13:g.24738871_24738882del

Links:

dbSNP: rs2128044552

NCBI 1000 Genomes Browser:

rs2128044552

Molecular consequence:

NM_001127453.2:c.1258-2_1267del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001127454.2:c.766-2_775del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_004403.3:c.1258-2_1267del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001994967	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 30, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001994967

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 30, 2019)

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, SCV001994967.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease; 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: Dec 24, 2023

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