rs11175121
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000509615.2(ENSG00000249753):n.239-66730T>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 0.0442 in 152,226 control chromosomes in the GnomAD database, including 294 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000509615.2 | n.239-66730T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000541353.2 | n.78-2062T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000543539.1 | n.234-2061T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0443 AC: 6733AN: 152108Hom.: 297 Cov.: 33
GnomAD4 genome ? AF: 0.0442 AC: 6728AN: 152226Hom.: 294 Cov.: 33 AF XY: 0.0449 AC XY: 3341AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at