NM_016361.5:c.379G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PP5_ModerateBP4BS2_Supporting
The NM_016361.5(ACP6):c.379G>A(p.Val127Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000899 in 1,614,212 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Consequence
NM_016361.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000440 AC: 67AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000382 AC: 96AN: 251342Hom.: 0 AF XY: 0.000375 AC XY: 51AN XY: 135852
GnomAD4 exome AF: 0.000947 AC: 1384AN: 1461868Hom.: 2 Cov.: 42 AF XY: 0.000921 AC XY: 670AN XY: 727236
GnomAD4 genome AF: 0.000440 AC: 67AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.000403 AC XY: 30AN XY: 74498
ClinVar
Submissions by phenotype
Cerebral visual impairment and intellectual disability Pathogenic:1
This study shows that diverse genetic causes underlie CVI. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at