rs4504469
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014809.4(KIAA0319):āc.931G>Cā(p.Ala311Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,461,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A311T) has been classified as Likely benign.
Frequency
Consequence
NM_014809.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIAA0319 | NM_014809.4 | c.931G>C | p.Ala311Pro | missense_variant | 4/21 | ENST00000378214.8 | NP_055624.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIAA0319 | ENST00000378214.8 | c.931G>C | p.Ala311Pro | missense_variant | 4/21 | 1 | NM_014809.4 | ENSP00000367459.3 | ||
KIAA0319 | ENST00000537886.5 | c.931G>C | p.Ala311Pro | missense_variant | 4/19 | 1 | ENSP00000439700.1 | |||
KIAA0319 | ENST00000535378.5 | c.904G>C | p.Ala302Pro | missense_variant | 5/22 | 2 | ENSP00000442403.1 | |||
KIAA0319 | ENST00000430948.6 | c.796G>C | p.Ala266Pro | missense_variant | 3/20 | 2 | ENSP00000401086.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251386Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135864
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461800Hom.: 0 Cov.: 38 AF XY: 0.0000261 AC XY: 19AN XY: 727210
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at