rs61742715
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001329943.3(KIAA0586):c.1570T>A(p.Leu524Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000519 in 1,588,436 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001329943.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KIAA0586 | NM_001329943.3 | c.1570T>A | p.Leu524Ile | missense_variant | Exon 11 of 31 | ENST00000652326.2 | NP_001316872.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KIAA0586 | ENST00000652326.2 | c.1570T>A | p.Leu524Ile | missense_variant | Exon 11 of 31 | NM_001329943.3 | ENSP00000498929.1 |
Frequencies
GnomAD3 genomes AF: 0.00283 AC: 430AN: 152212Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.000836 AC: 175AN: 209258Hom.: 2 AF XY: 0.000687 AC XY: 77AN XY: 112140
GnomAD4 exome AF: 0.000275 AC: 395AN: 1436106Hom.: 4 Cov.: 30 AF XY: 0.000258 AC XY: 184AN XY: 711956
GnomAD4 genome AF: 0.00282 AC: 429AN: 152330Hom.: 4 Cov.: 33 AF XY: 0.00268 AC XY: 200AN XY: 74498
ClinVar
Submissions by phenotype
not provided Benign:3
See Variant Classification Assertion Criteria. -
KIAA0586: BP4, BS1, BS2 -
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Joubert syndrome 23;C4225286:Short-rib thoracic dysplasia 14 with polydactyly Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at