NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs) AND Neonatal seizure

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001328493.1

Allele description [Variation Report for NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)]

NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)

Gene:
DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)
HGVS:
  • NC_000005.10:g.141528485dup
  • NG_011594.2:g.95571dup
  • NM_001079812.3:c.3089dup
  • NM_001314007.2:c.3116dup
  • NM_005219.5:c.3116dupMANE SELECT
  • NP_001073280.1:p.Asp1030fs
  • NP_001300936.1:p.Asp1039fs
  • NP_005210.3:p.Asp1039fs
  • LRG_1117t1:c.3089dup
  • LRG_1117t2:c.3116dup
  • LRG_1117:g.95571dup
  • LRG_1117p1:p.Asp1030fs
  • LRG_1117p2:p.Asp1039fs
  • NC_000005.9:g.140908052dup
Protein change:
D1030fs
Molecular consequence:
  • NM_001079812.3:c.3089dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001314007.2:c.3116dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005219.5:c.3116dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neonatal seizure
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001519648Institute of Human Genetics,University of Wuerzburgno assertion criteria providedLikely pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics,University of Wuerzburg, SCV001519648.1

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

Last Updated: Mar 22, 2021

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