2-9478263-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001039613.3(IAH1):c.176C>T(p.Thr59Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,612,596 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001039613.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IAH1 | NM_001039613.3 | c.176C>T | p.Thr59Ile | missense_variant | Exon 3 of 6 | ENST00000497473.6 | NP_001034702.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248384Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134736
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460438Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 726364
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.176C>T (p.T59I) alteration is located in exon 3 (coding exon 3) of the IAH1 gene. This alteration results from a C to T substitution at nucleotide position 176, causing the threonine (T) at amino acid position 59 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at