1-216198592-A-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_206933.4(USH2A):c.3812-8T>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_206933.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
USH2A | ENST00000307340.8 | c.3812-8T>A | splice_region_variant, intron_variant | Intron 17 of 71 | 1 | NM_206933.4 | ENSP00000305941.3 | |||
USH2A | ENST00000366942.3 | c.3812-8T>A | splice_region_variant, intron_variant | Intron 17 of 20 | 1 | ENSP00000355909.3 | ||||
USH2A | ENST00000674083.1 | c.3812-8T>A | splice_region_variant, intron_variant | Intron 17 of 72 | ENSP00000501296.1 | |||||
USH2A-AS1 | ENST00000420867.1 | n.362+2667A>T | intron_variant | Intron 2 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.