2-9478241-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001320859.2(IAH1):c.-186C>T 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 0.000099 in 1,606,414 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001320859.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IAH1 | NM_001039613.3 | c.154C>T | p.Arg52Cys | missense_variant | Exon 3 of 6 | ENST00000497473.6 | NP_001034702.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000660 AC: 16AN: 242314Hom.: 0 AF XY: 0.0000686 AC XY: 9AN XY: 131222
GnomAD4 exome AF: 0.0000990 AC: 144AN: 1454268Hom.: 0 Cov.: 31 AF XY: 0.0000899 AC XY: 65AN XY: 722874
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.154C>T (p.R52C) 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 154, causing the arginine (R) at amino acid position 52 to be replaced by a cysteine (C). 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