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NM_016955.4(SEPSECS):c.114+3A>G AND Neurodevelopmental abnormality

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001264723.8

Allele description [Variation Report for NM_016955.4(SEPSECS):c.114+3A>G]

NM_016955.4(SEPSECS):c.114+3A>G

Genes:
LOC129992330:ATAC-STARR-seq lymphoblastoid silent region 15319 [Gene]
SEPSECS:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.2
Genomic location:
Preferred name:
NM_016955.4(SEPSECS):c.114+3A>G
HGVS:
  • NC_000004.12:g.25160253T>C
  • NG_028222.1:g.5330A>G
  • NM_016955.4:c.114+3A>GMANE SELECT
  • NC_000004.11:g.25161875T>C
  • NM_016955.3:c.114+3A>G
Links:
Molecular consequence:
  • NM_016955.4:c.114+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neurodevelopmental abnormality
Identifiers:
MedGen: C4022737; Human Phenotype Ontology: HP:0012759

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442954Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
no assertion criteria provided
Uncertain significance
(Aug 14, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442954.1

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

Last Updated: Jul 29, 2024