rs9275659
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000585372.2(ENSG00000232080):n.298C>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 0.226 in 151,940 control chromosomes in the GnomAD database, including 4,095 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
ENST00000585372.2 non_coding_transcript_exon
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC102725019 | XR_001743875.3 | n.308C>A | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000232080 | ENST00000585372.2 | n.298C>A | non_coding_transcript_exon_variant | 1/2 | 3 | |||||
ENSG00000232080 | ENST00000448198.2 | n.143+179C>A | intron_variant | 2 | ||||||
ENSG00000232080 | ENST00000621553.1 | n.120-80C>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.226 AC: 34314AN: 151822Hom.: 4085 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 2Hom.: 0 Cov.: 0AC XY: 0AN XY: 0
GnomAD4 genome AF: 0.226 AC: 34347AN: 151940Hom.: 4095 Cov.: 32 AF XY: 0.221 AC XY: 16393AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at