12-8943507-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001414329.1(M6PR):c.-35G>A variant causes a 5 prime UTR premature start codon gain change. The variant allele was found at a frequency of 0.0000167 in 1,614,188 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001414329.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152206Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251456Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135902
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727248
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152324Hom.: 1 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.482G>A (p.R161H) alteration is located in exon 5 (coding exon 4) of the M6PR gene. This alteration results from a G to A substitution at nucleotide position 482, causing the arginine (R) at amino acid position 161 to be replaced by a histidine (H). 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