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NM_001127453.2(GSDME):c.577-15C>T AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 7, 2012
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:
RCV000037977.5

Allele description [Variation Report for NM_001127453.2(GSDME):c.577-15C>T]

NM_001127453.2(GSDME):c.577-15C>T

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.577-15C>T
HGVS:
  • NC_000007.14:g.24717389G>A
  • NG_011593.1:g.45632C>T
  • NM_001127453.2:c.577-15C>TMANE SELECT
  • NM_001127454.2:c.85-15C>T
  • NM_004403.3:c.577-15C>T
  • LRG_1428t1:c.577-15C>T
  • LRG_1428:g.45632C>T
  • NC_000007.13:g.24757008G>A
  • NM_004403.2:c.577-15C>T
  • c.577-15C>T
Links:
dbSNP: rs11970787
NCBI 1000 Genomes Browser:
rs11970787
Molecular consequence:
  • NM_001127453.2:c.577-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127454.2:c.85-15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004403.3:c.577-15C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
12

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061643Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(May 7, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1212not providednot providednot providedclinical 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, SCV000061643.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided12not providednot providedclinical testing PubMed (1)

Description

577-15C>T in Intron 04 of DFNA5: This variant is not expected to have clinical s ignificance because it has been identified in 2.2% (83/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs11970787).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided12not provided12not provided

Last Updated: Sep 29, 2024