U.S. flag

An official website of the United States government

NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) AND Developmental and epileptic encephalopathy, 19

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 20, 2018
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:
RCV001253629.1

Allele description [Variation Report for NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)]

NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)

Gene:
GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
Other names:
p.T295I:ACA>ATA
HGVS:
  • NC_000005.10:g.161895693C>T
  • NG_011548.1:g.53503C>T
  • NM_000806.5:c.884C>T
  • NM_001127643.2:c.884C>T
  • NM_001127644.2:c.884C>TMANE SELECT
  • NM_001127645.2:c.884C>T
  • NM_001127648.2:c.884C>T
  • NP_000797.2:p.Thr295Ile
  • NP_001121115.1:p.Thr295Ile
  • NP_001121116.1:p.Thr295Ile
  • NP_001121117.1:p.Thr295Ile
  • NP_001121120.1:p.Thr295Ile
  • NC_000005.9:g.161322699C>T
Protein change:
T295I
Links:
dbSNP: rs796052496
NCBI 1000 Genomes Browser:
rs796052496
Molecular consequence:
  • NM_000806.5:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Developmental and epileptic encephalopathy, 19 (DEE19)
Synonyms:
Epileptic encephalopathy, early infantile, 19
Identifiers:
MONDO: MONDO:0014328; MedGen: C3810400; Orphanet: 33069; OMIM: 615744

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001429456Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 20, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001429456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant was identified as de novo (maternity and paternity confirmed).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024