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NM_015443.4(KANSL1):c.-90+24CCT[3]

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 9, 2021)
Last evaluated:
Jun 23, 2018
Accession:
VCV000323810.4
Variation ID:
323810
Description:
3bp microsatellite
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NM_015443.4(KANSL1):c.-90+24CCT[3]

Allele ID
338918
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
17q21.31
Genomic location
17: 46192788-46192790 (GRCh38) GRCh38 UCSC
17: 44270154-44270156 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44270156GAG[3]
NC_000017.11:g.46192790GAG[3]
NG_032784.1:g.37576CCT[3]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46192787:AGGAGGAGGAGGAG:AGGAGGAGGAG
Functional consequence
-
Global minor allele frequency (GMAF)
0.07189 (AGGAGGAGGAG)

Allele frequency
-
Links
ClinGen: CA10645979
dbSNP: rs143625699
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000289114.2
Benign 1 criteria provided, single submitter Jun 23, 2018 RCV001618567.3
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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
876 1035

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Intellectual Disability Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000403670.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001845130.1
Submitted: (Sep 09, 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.

Text-mined citations for rs143625699...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021