rs6700378
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000653456.1(ENSG00000226919):n.670-484G>A 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 0.172 in 152,120 control chromosomes in the GnomAD database, including 3,033 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
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 |
---|---|---|---|---|---|---|---|
RGS7 | NM_001374806.1 | c.*899C>T | 3_prime_UTR_variant | 17/17 | |||
RGS7 | NM_001374807.1 | c.*842C>T | 3_prime_UTR_variant | 16/16 | |||
RGS7 | NM_001374808.1 | c.*899C>T | 3_prime_UTR_variant | 19/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000653456.1 | n.670-484G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.172 AC: 26150AN: 152002Hom.: 3022 Cov.: 33
GnomAD4 genome AF: 0.172 AC: 26196AN: 152120Hom.: 3033 Cov.: 33 AF XY: 0.167 AC XY: 12451AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at