NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 23, 2016
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:: RCV000611135.4

Allele description [Variation Report for NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)]

NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)

Gene:

GSDME:gasdermin E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

Preferred name:

NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)

HGVS:

NC_000007.14:g.24702809A>G
NG_011593.1:g.60212T>C
NM_001127453.2:c.1208T>CMANE SELECT
NM_001127454.2:c.716T>C
NM_004403.3:c.1208T>C
NP_001120925.1:p.Leu403Pro
NP_001120926.1:p.Leu239Pro
NP_004394.1:p.Leu403Pro
LRG_1428t1:c.1208T>C
LRG_1428:g.60212T>C
LRG_1428p1:p.Leu403Pro
NC_000007.13:g.24742428A>G
NM_004403.2:c.1208T>C

Protein change:

L239P

Links:

dbSNP: rs199971778

NCBI 1000 Genomes Browser:

rs199971778

Molecular consequence:

NM_001127453.2:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127454.2:c.716T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004403.3:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000731296	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Nov 23, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000731296

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Nov 23, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000731296.1

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

Description

p.Leu403Pro in exon 9 of DFNA5: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (44/16512) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs199971778).

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

Last Updated: Oct 20, 2024

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