rs115332491
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_006612.6(KIF1C):c.2987G>A(p.Ser996Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00385 in 1,518,520 control chromosomes in the GnomAD database, including 116 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S996S) has been classified as Likely benign.
Frequency
Consequence
NM_006612.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIF1C | NM_006612.6 | c.2987G>A | p.Ser996Asn | missense_variant | 23/23 | ENST00000320785.10 | |
KIF1C | XM_005256424.3 | c.2987G>A | p.Ser996Asn | missense_variant | 24/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIF1C | ENST00000320785.10 | c.2987G>A | p.Ser996Asn | missense_variant | 23/23 | 1 | NM_006612.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0144 AC: 2185AN: 152102Hom.: 43 Cov.: 32
GnomAD3 exomes AF: 0.00915 AC: 1565AN: 171012Hom.: 35 AF XY: 0.00745 AC XY: 677AN XY: 90894
GnomAD4 exome AF: 0.00268 AC: 3657AN: 1366300Hom.: 73 Cov.: 35 AF XY: 0.00247 AC XY: 1651AN XY: 669546
GnomAD4 genome ? AF: 0.0144 AC: 2196AN: 152220Hom.: 43 Cov.: 32 AF XY: 0.0140 AC XY: 1041AN XY: 74408
ClinVar
Submissions by phenotype
KIF1C-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 04, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Spastic ataxia 2 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 16, 2024 | - - |
Hereditary spastic paraplegia Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome Diagnostics Laboratory, The Hospital for Sick Children | Jan 14, 2022 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 03, 2019 | This variant is associated with the following publications: (PMID: 32501971) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at