chr5-62306480-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001243952.2(KIF2A):c.-277C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000583 in 1,544,600 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001243952.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIF2A | ENST00000407818.8 | c.8C>T | p.Thr3Met | missense_variant | Exon 1 of 21 | 1 | NM_001098511.3 | ENSP00000385000.3 | ||
ENSG00000288643 | ENST00000509663.2 | n.8C>T | non_coding_transcript_exon_variant | Exon 1 of 6 | 3 | ENSP00000502199.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152054Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000691 AC: 1AN: 144706Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 77488
GnomAD4 exome AF: 0.00000431 AC: 6AN: 1392546Hom.: 0 Cov.: 32 AF XY: 0.00000437 AC XY: 3AN XY: 686792
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152054Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74266
ClinVar
Submissions by phenotype
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1353578). This variant has not been reported in the literature in individuals affected with KIF2A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 3 of the KIF2A protein (p.Thr3Met). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at