rs2760163
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014809.4(KIAA0319):c.2293-11T>C variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0255 in 1,612,004 control chromosomes in the GnomAD database, including 1,213 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014809.4 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.2293-11T>C | splice_polypyrimidine_tract_variant, intron_variant | ENST00000378214.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA0319 | ENST00000378214.8 | c.2293-11T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_014809.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0498 AC: 7570AN: 152152Hom.: 419 Cov.: 32
GnomAD3 exomes AF: 0.0208 AC: 5190AN: 249516Hom.: 191 AF XY: 0.0180 AC XY: 2425AN XY: 134884
GnomAD4 exome AF: 0.0230 AC: 33585AN: 1459734Hom.: 792 Cov.: 31 AF XY: 0.0219 AC XY: 15922AN XY: 726272
GnomAD4 genome ? AF: 0.0498 AC: 7577AN: 152270Hom.: 421 Cov.: 32 AF XY: 0.0468 AC XY: 3482AN XY: 74456
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at