12-110127445-A-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_014055.4(IFT81):āc.65A>Cā(p.Asn22Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00262 in 1,608,994 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_014055.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IFT81 | NM_014055.4 | c.65A>C | p.Asn22Thr | missense_variant | Exon 2 of 19 | ENST00000242591.10 | NP_054774.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00153 AC: 233AN: 152194Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00130 AC: 317AN: 243004Hom.: 1 AF XY: 0.00133 AC XY: 175AN XY: 131510
GnomAD4 exome AF: 0.00274 AC: 3990AN: 1456682Hom.: 5 Cov.: 30 AF XY: 0.00263 AC XY: 1908AN XY: 724374
GnomAD4 genome AF: 0.00153 AC: 233AN: 152312Hom.: 1 Cov.: 31 AF XY: 0.00125 AC XY: 93AN XY: 74462
ClinVar
Submissions by phenotype
IFT81-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at