15-27755117-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS1
The NM_000275.3(OCA2):c.*271G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000664 in 427,592 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000275.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000559 AC: 85AN: 152118Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000723 AC: 199AN: 275356Hom.: 1 Cov.: 0 AF XY: 0.000760 AC XY: 113AN XY: 148714
GnomAD4 genome AF: 0.000558 AC: 85AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.000645 AC XY: 48AN XY: 74430
ClinVar
Submissions by phenotype
Tyrosinase-positive oculocutaneous albinism Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at