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NM_015443.4(KANSL1):c.-90+512del

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Aug 7, 2021
Most recent Submission:
Aug 7, 2021
Last evaluated:
Aug 14, 2019
Accession:
VCV001189187.2
Variation ID:
1189187
Description:
1bp deletion
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NM_015443.4(KANSL1):c.-90+512del

Allele ID
1181534
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46192311 (GRCh38) GRCh38 UCSC
17: 44269677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.-90+512del MANE Select
NM_001193465.2:c.-89-20079del
NM_001193466.2:c.-90+108del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46192310:AAAAAAAAAAAAA:AAAAAAAAAAAA
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
Likely benign 1 criteria provided, single submitter Aug 14, 2019 RCV001549475.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
1071 1218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Aug 14, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001769631.1
First in ClinVar: Aug 07, 2021
Last updated: Aug 07, 2021

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 Apr 25, 2022