rs10485188
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001010892.3(RSPH4A):c.1916+46C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000135 in 738,858 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_001010892.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RSPH4A | ENST00000229554.10 | c.1916+46C>A | intron_variant | Intron 5 of 5 | 1 | NM_001010892.3 | ENSP00000229554.5 | |||
RSPH4A | ENST00000368581.8 | c.1780+46C>A | intron_variant | Intron 4 of 4 | 1 | ENSP00000357570.4 | ||||
RSPH4A | ENST00000368580.4 | c.1175+46C>A | intron_variant | Intron 4 of 4 | 5 | ENSP00000357569.4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000135 AC: 1AN: 738858Hom.: 0 Cov.: 10 AF XY: 0.00000253 AC XY: 1AN XY: 395510
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.