21-42472846-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080860.4(RSPH1):c.902A>G(p.Glu301Gly) variant causes a missense 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_080860.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RSPH1 | NM_080860.4 | c.902A>G | p.Glu301Gly | missense_variant | Exon 9 of 9 | ENST00000291536.8 | NP_543136.1 | |
RSPH1 | NM_001286506.2 | c.788A>G | p.Glu263Gly | missense_variant | Exon 8 of 8 | NP_001273435.1 | ||
RSPH1 | XM_011529786.2 | c.830A>G | p.Glu277Gly | missense_variant | Exon 8 of 8 | XP_011528088.1 | ||
RSPH1 | XM_005261208.3 | c.695A>G | p.Glu232Gly | missense_variant | Exon 7 of 7 | XP_005261265.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RSPH1 | ENST00000291536.8 | c.902A>G | p.Glu301Gly | missense_variant | Exon 9 of 9 | 1 | NM_080860.4 | ENSP00000291536.3 | ||
RSPH1 | ENST00000398352.3 | c.788A>G | p.Glu263Gly | missense_variant | Exon 8 of 8 | 5 | ENSP00000381395.3 | |||
RSPH1 | ENST00000493019.1 | n.2520A>G | non_coding_transcript_exon_variant | Exon 8 of 8 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at