U.S. flag

An official website of the United States government

NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) AND Developmental and epileptic encephalopathy, 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001824767.1

Allele description [Variation Report for NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)]

NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)

Gene:
HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)
HGVS:
  • NC_000001.11:g.244863955G>T
  • NG_042184.1:g.5571C>A
  • NM_004501.3:c.353C>A
  • NM_031844.3:c.353C>AMANE SELECT
  • NP_004492.2:p.Ser118Ter
  • NP_114032.2:p.Ser118Ter
  • NC_000001.10:g.245027257G>T
  • NM_031844.2:c.353C>A
Protein change:
S118*
Links:
dbSNP: rs1057524584
NCBI 1000 Genomes Browser:
rs1057524584
Molecular consequence:
  • NM_004501.3:c.353C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031844.3:c.353C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 1 (DEE1)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350

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
SCV002074696GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novounknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002074696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 01-30-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novounknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Aug 5, 2023