11-77102915-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006189.1(OMP):c.76C>T(p.Arg26Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0551 in 1,612,714 control chromosomes in the GnomAD database, including 3,369 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R26L) has been classified as Uncertain significance.
Frequency
Consequence
NM_006189.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OMP | NM_006189.1 | c.76C>T | p.Arg26Trp | missense_variant | 1/1 | ENST00000529803.1 | |
CAPN5 | NM_004055.5 | c.297+9102C>T | intron_variant | ENST00000648180.1 | |||
CAPN5 | XM_011545225.1 | c.417+9102C>T | intron_variant | ||||
CAPN5 | XM_017018223.3 | c.405+9102C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OMP | ENST00000529803.1 | c.76C>T | p.Arg26Trp | missense_variant | 1/1 | NM_006189.1 | P1 | ||
CAPN5 | ENST00000648180.1 | c.297+9102C>T | intron_variant | NM_004055.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0528 AC: 8038AN: 152234Hom.: 410 Cov.: 33
GnomAD3 exomes AF: 0.0699 AC: 17180AN: 245804Hom.: 1064 AF XY: 0.0623 AC XY: 8354AN XY: 134142
GnomAD4 exome AF: 0.0553 AC: 80789AN: 1460362Hom.: 2960 Cov.: 32 AF XY: 0.0533 AC XY: 38707AN XY: 726488
GnomAD4 genome AF: 0.0528 AC: 8045AN: 152352Hom.: 409 Cov.: 33 AF XY: 0.0559 AC XY: 4166AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at