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

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 18, 2021)
Accession:
VCV001027662.1
Variation ID:
1027662
Description:
1bp duplication
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NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)

Allele ID
1015420
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q31.3
Genomic location
5: 141528484-141528485 (GRCh38) GRCh38 UCSC
5: 140908051-140908052 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.141528485dup
NC_000005.9:g.140908052dup
NM_005219.5:c.3116dup MANE Select NP_005210.3:p.Asp1039fs frameshift
... more HGVS
Protein change
D1030fs, D1039fs
Other names
-
Canonical SPDI
NC_000005.10:141528484:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Neonatal seizure
Likely pathogenic 1 no assertion criteria provided - RCV001328493.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DIAPH1 - - GRCh38
GRCh37
522 542

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Neonatal seizure
Allele origin: unknown
Institute of Human Genetics,University of Wuerzburg
Accession: SCV001519648.1
Submitted: (Mar 18, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Mar 22, 2021