rs1936313
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000680612.1(OPHN1):c.1687-31221A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.408 in 110,075 control chromosomes in the GnomAD database, including 7,056 homozygotes. There are 12,746 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000680612.1 intron
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
use as main transcript | n.67980806T>C | intergenic_region |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OPHN1 | ENST00000680612.1 | c.1687-31221A>G | intron_variant | ENSP00000505365.1 |
Frequencies
GnomAD3 genomes AF: 0.408 AC: 44842AN: 110024Hom.: 7049 Cov.: 22 AF XY: 0.394 AC XY: 12720AN XY: 32300
GnomAD4 genome AF: 0.408 AC: 44876AN: 110075Hom.: 7056 Cov.: 22 AF XY: 0.394 AC XY: 12746AN XY: 32361
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at