2-215996331-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018000.3(MREG):c.230G>A(p.Arg77His) variant causes a missense change. The variant allele was found at a frequency of 0.0000173 in 1,613,886 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R77C) has been classified as Uncertain significance.
Frequency
Consequence
NM_018000.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 248986Hom.: 1 AF XY: 0.0000518 AC XY: 7AN XY: 135080
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461550Hom.: 1 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727060
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152336Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.230G>A (p.R77H) alteration is located in exon 2 (coding exon 2) of the MREG gene. This alteration results from a G to A substitution at nucleotide position 230, causing the arginine (R) at amino acid position 77 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