17-46171524-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS2
The NM_015443.4(KANSL1):c.620A>G(p.Asn207Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000442 in 1,613,538 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N207D) has been classified as Likely benign.
Frequency
Consequence
NM_015443.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KANSL1 | NM_015443.4 | c.620A>G | p.Asn207Ser | missense_variant | 2/15 | ENST00000432791.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KANSL1 | ENST00000432791.7 | c.620A>G | p.Asn207Ser | missense_variant | 2/15 | 1 | NM_015443.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000191 AC: 29AN: 152126Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.000255 AC: 64AN: 251040Hom.: 0 AF XY: 0.000243 AC XY: 33AN XY: 135670
GnomAD4 exome AF: 0.000468 AC: 684AN: 1461412Hom.: 0 Cov.: 35 AF XY: 0.000424 AC XY: 308AN XY: 727006
GnomAD4 genome ? AF: 0.000191 AC: 29AN: 152126Hom.: 0 Cov.: 35 AF XY: 0.000215 AC XY: 16AN XY: 74320
ClinVar
Submissions by phenotype
not provided Benign:5
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Dec 23, 2015 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 27, 2020 | - - |
Likely benign, no assertion criteria provided | clinical testing | Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | - | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2023 | KANSL1: BP4 - |
Likely benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Koolen-de Vries syndrome Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Aug 16, 2022 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Aug 27, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at