6-24551436-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_014809.4(KIAA0319):c.3038A>G(p.Tyr1013Cys) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 1,593,340 control chromosomes in the GnomAD database, including 14,484 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_014809.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA0319 | NM_014809.4 | c.3038A>G | p.Tyr1013Cys | missense_variant, splice_region_variant | 20/21 | ENST00000378214.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA0319 | ENST00000378214.8 | c.3038A>G | p.Tyr1013Cys | missense_variant, splice_region_variant | 20/21 | 1 | NM_014809.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.118 AC: 17875AN: 152100Hom.: 1130 Cov.: 32
GnomAD3 exomes AF: 0.119 AC: 29879AN: 251242Hom.: 1900 AF XY: 0.119 AC XY: 16220AN XY: 135798
GnomAD4 exome AF: 0.132 AC: 190114AN: 1441122Hom.: 13353 Cov.: 29 AF XY: 0.131 AC XY: 94016AN XY: 718186
GnomAD4 genome ? AF: 0.118 AC: 17897AN: 152218Hom.: 1131 Cov.: 32 AF XY: 0.114 AC XY: 8521AN XY: 74424
ClinVar
Submissions by phenotype
KIAA0319-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 23, 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). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at