13-20574465-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001353579.2(IFT88):c.-484A>C variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000503 in 1,590,664 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001353579.2 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IFT88 | NM_006531.5 | c.80A>C | p.Tyr27Ser | missense_variant | Exon 2 of 26 | ENST00000351808.10 | NP_006522.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IFT88 | ENST00000351808.10 | c.80A>C | p.Tyr27Ser | missense_variant | Exon 2 of 26 | 1 | NM_006531.5 | ENSP00000261632.5 | ||
IFT88 | ENST00000319980.10 | c.107A>C | p.Tyr36Ser | missense_variant | Exon 4 of 28 | 1 | ENSP00000323580.6 | |||
IFT88 | ENST00000389373.3 | c.80A>C | p.Tyr27Ser | missense_variant | Exon 3 of 4 | 4 | ENSP00000374024.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247848Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133958
GnomAD4 exome AF: 0.00000487 AC: 7AN: 1438432Hom.: 0 Cov.: 24 AF XY: 0.00000558 AC XY: 4AN XY: 716734
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with IFT88-related conditions. This variant is present in population databases (rs750818479, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 36 of the IFT88 protein (p.Tyr36Ser). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at