rs2744550
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014809.4(KIAA0319):c.2317A>G(p.Ser773Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0259 in 1,613,302 control chromosomes in the GnomAD database, including 1,214 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. 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
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA0319 | NM_014809.4 | c.2317A>G | p.Ser773Gly | missense_variant | 15/21 | ENST00000378214.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA0319 | ENST00000378214.8 | c.2317A>G | p.Ser773Gly | missense_variant | 15/21 | 1 | NM_014809.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0498 AC: 7569AN: 152092Hom.: 419 Cov.: 32
GnomAD3 exomes AF: 0.0209 AC: 5230AN: 250664Hom.: 198 AF XY: 0.0180 AC XY: 2440AN XY: 135500
GnomAD4 exome AF: 0.0234 AC: 34210AN: 1461092Hom.: 793 Cov.: 31 AF XY: 0.0223 AC XY: 16209AN XY: 726902
GnomAD4 genome ? AF: 0.0498 AC: 7576AN: 152210Hom.: 421 Cov.: 32 AF XY: 0.0468 AC XY: 3481AN XY: 74430
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at