rs17325472
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664814.1(ENSG00000288025):n.4211C>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.389 in 152,062 control chromosomes in the GnomAD database, including 13,655 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 |
---|---|---|---|---|---|---|---|
LOC112268474 | XR_002959832.2 | n.115-738C>A | intron_variant, non_coding_transcript_variant | ||||
SCRG1 | NM_001329597.2 | c.-14-10552G>T | intron_variant | ||||
SCRG1 | XM_047449563.1 | c.-14-10552G>T | intron_variant | ||||
LOC112268474 | XR_007058369.1 | n.4639C>A | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664814.1 | n.4211C>A | non_coding_transcript_exon_variant | 1/3 | ||||||
SCRG1 | ENST00000512188.1 | c.-364+1144G>T | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.390 AC: 59242AN: 151944Hom.: 13660 Cov.: 32
GnomAD4 genome ? AF: 0.389 AC: 59224AN: 152062Hom.: 13655 Cov.: 32 AF XY: 0.390 AC XY: 28999AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at