rs9310888
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655701.1(RBMS3-AS3):n.354+29052T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 152,034 control chromosomes in the GnomAD database, including 5,188 homozygotes. 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
ENST00000655701.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBMS3-AS3 | ENST00000655701.1 | n.354+29052T>C | intron_variant, non_coding_transcript_variant | ||||||
RBMS3 | ENST00000636680.2 | c.456+62142A>G | intron_variant | 5 | |||||
RBMS3 | ENST00000637842.1 | c.*169+62142A>G | intron_variant, NMD_transcript_variant | 5 | |||||
RBMS3 | ENST00000636900.1 | n.413-2971A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.192 AC: 29182AN: 151916Hom.: 5178 Cov.: 32
GnomAD4 genome AF: 0.192 AC: 29235AN: 152034Hom.: 5188 Cov.: 32 AF XY: 0.193 AC XY: 14372AN XY: 74296
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at