rs10514869
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_110801.1(LOC100507002):n.321+3844A>G 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 0.0363 in 152,248 control chromosomes in the GnomAD database, including 578 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
NR_110801.1 intron, non_coding_transcript
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 | UniProt |
---|---|---|---|---|---|---|---|
LOC100507002 | NR_110801.1 | n.321+3844A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RGS9 | ENST00000635833.1 | c.57+4098A>G | intron_variant | 5 | A2 | ||||
RGS9 | ENST00000582940.2 | n.165+4098A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
RGS9 | ENST00000637818.1 | n.303+3844A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
RGS9 | ENST00000638125.1 | n.321+3844A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0364 AC: 5532AN: 152130Hom.: 579 Cov.: 32
GnomAD4 genome ? AF: 0.0363 AC: 5527AN: 152248Hom.: 578 Cov.: 32 AF XY: 0.0427 AC XY: 3182AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at