rs12808959
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000544781.5(ENSG00000260877):n.155+20655T>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 0.446 in 152,044 control chromosomes in the GnomAD database, including 16,618 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000544781.5 | n.155+20655T>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000535660.2 | n.305+3158T>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
MYEOV | ENST00000544008.1 | n.427-21427T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.445 AC: 67680AN: 151924Hom.: 16573 Cov.: 33
GnomAD4 genome ? AF: 0.446 AC: 67803AN: 152044Hom.: 16618 Cov.: 33 AF XY: 0.450 AC XY: 33460AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at