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NM_015443.4(KANSL1):c.2021-234A>C

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Sep 8, 2021
Most recent Submission:
Sep 8, 2021
Last evaluated:
Jul 6, 2018
Accession:
VCV001212008.3
Variation ID:
1212008
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.2021-234A>C

Allele ID
1202003
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46040118 (GRCh38) GRCh38 UCSC
17: 44117484 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.2021-234A>C MANE Select
NM_001193465.2:c.2021-234A>C
NM_001193466.2:c.2021-234A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46040117:T:G
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 Jul 6, 2018 RCV001584873.3
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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
(Jul 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001813814.1
First in ClinVar: Sep 08, 2021
Last updated: Sep 08, 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