12-7306684-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001080454.2(ACSM4):c.353C>T(p.Ala118Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000114 in 1,611,134 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080454.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152044Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000614 AC: 15AN: 244388Hom.: 0 AF XY: 0.0000680 AC XY: 9AN XY: 132364
GnomAD4 exome AF: 0.000119 AC: 173AN: 1459090Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 88AN XY: 725442
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.353C>T (p.A118V) alteration is located in exon 2 (coding exon 2) of the ACSM4 gene. This alteration results from a C to T substitution at nucleotide position 353, causing the alanine (A) at amino acid position 118 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