8-144468600-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001369769.2(KIFC2):c.953C>T(p.Thr318Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00011 in 1,612,490 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001369769.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIFC2 | NM_001369769.2 | c.953C>T | p.Thr318Met | missense_variant | 9/18 | ENST00000645548.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIFC2 | ENST00000645548.2 | c.953C>T | p.Thr318Met | missense_variant | 9/18 | NM_001369769.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152090Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000528 AC: 13AN: 246374Hom.: 0 AF XY: 0.0000448 AC XY: 6AN XY: 133898
GnomAD4 exome AF: 0.000114 AC: 166AN: 1460400Hom.: 0 Cov.: 36 AF XY: 0.000113 AC XY: 82AN XY: 726428
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152090Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2022 | The c.953C>T (p.T318M) alteration is located in exon 9 (coding exon 9) of the KIFC2 gene. This alteration results from a C to T substitution at nucleotide position 953, causing the threonine (T) at amino acid position 318 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at