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NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) AND Intellectual disability-epilepsy-extrapyramidal syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 18, 2020
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:
RCV001836871.1

Allele description [Variation Report for NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)]

NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)

Gene:
DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)
HGVS:
  • NC_000011.10:g.678763C>T
  • NG_034156.2:g.33321G>A
  • NM_001293634.1:c.919G>A
  • NM_001367390.1:c.460G>A
  • NM_021008.2:c.1186G>A
  • NM_021008.4:c.1186G>AMANE SELECT
  • NP_001280563.1:p.Gly307Ser
  • NP_001354319.1:p.Gly154Ser
  • NP_066288.2:p.Gly396Ser
  • NP_066288.2:p.Gly396Ser
  • NC_000011.9:g.678763C>T
  • NM_021008.3:c.1186G>A
Protein change:
G154S
Links:
dbSNP: rs138447102
NCBI 1000 Genomes Browser:
rs138447102
Molecular consequence:
  • NM_001293634.1:c.919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367390.1:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021008.4:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability-epilepsy-extrapyramidal syndrome (NEDHELS)
Synonyms:
Dyskinesia, seizures, and intellectual developmental disorder
Identifiers:
MONDO: MONDO:0014952; MedGen: C4310683; OMIM: 617171

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002098010New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Jun 18, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002098010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024