NM_005172.2:c.133G>C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005172.2(ATOH1):c.133G>C(p.Glu45Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000209 in 1,613,736 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. E45E) has been classified as Likely benign.
Frequency
Consequence
NM_005172.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152076Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000412 AC: 103AN: 250140Hom.: 0 AF XY: 0.000384 AC XY: 52AN XY: 135510
GnomAD4 exome AF: 0.000205 AC: 300AN: 1461660Hom.: 1 Cov.: 32 AF XY: 0.000202 AC XY: 147AN XY: 727146
GnomAD4 genome AF: 0.000243 AC: 37AN: 152076Hom.: 1 Cov.: 33 AF XY: 0.000188 AC XY: 14AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.133G>C (p.E45Q) alteration is located in exon 1 (coding exon 1) of the ATOH1 gene. This alteration results from a G to C substitution at nucleotide position 133, causing the glutamic acid (E) at amino acid position 45 to be replaced by a glutamine (Q). 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