rs753550166
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014714.4(IFT140):c.3584T>G(p.Ile1195Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. I1195T) has been classified as Uncertain significance.
Frequency
Consequence
NM_014714.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFT140 | NM_014714.4 | c.3584T>G | p.Ile1195Arg | missense_variant | 27/31 | ENST00000426508.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFT140 | ENST00000426508.7 | c.3584T>G | p.Ile1195Arg | missense_variant | 27/31 | 5 | NM_014714.4 | P1 | |
IFT140 | ENST00000361339.9 | c.1166T>G | p.Ile389Arg | missense_variant | 9/13 | 1 | |||
IFT140 | ENST00000565298.5 | n.3408T>G | non_coding_transcript_exon_variant | 15/19 | 2 | ||||
IFT140 | ENST00000397417.6 | c.*2022T>G | 3_prime_UTR_variant, NMD_transcript_variant | 20/24 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240524Hom.: 0 AF XY: 0.00000766 AC XY: 1AN XY: 130500
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456336Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724046
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at