17-46029951-CCTT-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_015443.4(KANSL1):c.*1522_*1524del variant causes a 3 prime UTR change. The variant allele was found at a frequency of 0.00174 in 148,210 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0017 ( 1 hom., cov: 31)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
KANSL1
NM_015443.4 3_prime_UTR
NM_015443.4 3_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 3.79
Genes affected
KANSL1 (HGNC:24565): (KAT8 regulatory NSL complex subunit 1) This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 17-46029951-CCTT-C is Benign according to our data. Variant chr17-46029951-CCTT-C is described in ClinVar as [Benign]. Clinvar id is 2647854.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.00174 (258/148210) while in subpopulation AMR AF= 0.00566 (83/14666). AF 95% confidence interval is 0.00468. There are 1 homozygotes in gnomad4. There are 134 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
BS2
?
High AC in GnomAd at 258 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KANSL1 | NM_015443.4 | c.*1522_*1524del | 3_prime_UTR_variant | 15/15 | ENST00000432791.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KANSL1 | ENST00000432791.7 | c.*1522_*1524del | 3_prime_UTR_variant | 15/15 | 1 | NM_015443.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00174 AC: 258AN: 148088Hom.: 1 Cov.: 31
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31
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 318Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 194
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GnomAD4 genome ? AF: 0.00174 AC: 258AN: 148210Hom.: 1 Cov.: 31 AF XY: 0.00185 AC XY: 134AN XY: 72460
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2022 | KANSL1: BS1, BS2 - |
Computational scores
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at