2-9474571-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001039613.3(IAH1):c.5C>T(p.Ala2Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000595 in 1,513,862 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
Genome browser will be placed here
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.5C>T | p.Ala2Val | missense_variant | Exon 1 of 6 | ENST00000497473.6 | NP_001034702.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151348Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000133 AC: 2AN: 150706Hom.: 0 AF XY: 0.0000233 AC XY: 2AN XY: 85916
GnomAD4 exome AF: 0.00000587 AC: 8AN: 1362514Hom.: 0 Cov.: 32 AF XY: 0.00000887 AC XY: 6AN XY: 676672
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151348Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73898
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5C>T (p.A2V) alteration is located in exon 1 (coding exon 1) of the IAH1 gene. This alteration results from a C to T substitution at nucleotide position 5, causing the alanine (A) at amino acid position 2 to be replaced by a valine (V). 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