10-24473861-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019590.5(KIAA1217):c.1480G>A(p.Gly494Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000712 in 1,614,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019590.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA1217 | NM_019590.5 | c.1480G>A | p.Gly494Ser | missense_variant | 6/21 | ENST00000376454.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA1217 | ENST00000376454.8 | c.1480G>A | p.Gly494Ser | missense_variant | 6/21 | 1 | NM_019590.5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000855 AC: 13AN: 152036Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000915 AC: 23AN: 251272Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135790
GnomAD4 exome AF: 0.0000698 AC: 102AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000729 AC XY: 53AN XY: 727244
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2022 | The c.1480G>A (p.G494S) alteration is located in exon 6 (coding exon 6) of the KIAA1217 gene. This alteration results from a G to A substitution at nucleotide position 1480, causing the glycine (G) at amino acid position 494 to be replaced by a serine (S). 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