chr6-24556708-C-G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_014809.4(KIAA0319):c.2756G>C(p.Gly919Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000346 in 1,613,854 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 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
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA0319 | NM_014809.4 | c.2756G>C | p.Gly919Ala | missense_variant | 18/21 | ENST00000378214.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA0319 | ENST00000378214.8 | c.2756G>C | p.Gly919Ala | missense_variant | 18/21 | 1 | NM_014809.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000453 AC: 69AN: 152192Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00120 AC: 300AN: 250928Hom.: 4 AF XY: 0.00105 AC XY: 143AN XY: 135604
GnomAD4 exome AF: 0.000335 AC: 489AN: 1461544Hom.: 4 Cov.: 30 AF XY: 0.000300 AC XY: 218AN XY: 727078
GnomAD4 genome ? AF: 0.000453 AC: 69AN: 152310Hom.: 1 Cov.: 32 AF XY: 0.000550 AC XY: 41AN XY: 74480
ClinVar
Submissions by phenotype
KIAA0319-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 01, 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). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Aug 14, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at