rs12515335
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657075.1(ENSG00000249782):n.689-3102T>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 0.187 in 152,058 control chromosomes in the GnomAD database, including 3,063 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 |
---|---|---|---|---|---|---|---|
LOC105374647 | XR_925766.3 | n.651-3102T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105374647 | XR_925767.3 | n.641-3102T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105374647 | XR_925768.3 | n.473-3102T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000657075.1 | n.689-3102T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000654467.1 | n.472-3102T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000659580.1 | n.651-3102T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.187 AC: 28456AN: 151940Hom.: 3062 Cov.: 32
GnomAD4 genome ? AF: 0.187 AC: 28479AN: 152058Hom.: 3063 Cov.: 32 AF XY: 0.184 AC XY: 13645AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at