chr6-24551440-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014809.4(KIAA0319):c.3034A>G(p.Lys1012Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000344 in 1,454,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014809.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1454832Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 724336
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3034A>G (p.K1012E) alteration is located in exon 20 (coding exon 19) of the KIAA0319 gene. This alteration results from a A to G substitution at nucleotide position 3034, causing the lysine (K) at amino acid position 1012 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.