rs10131728
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000646052.2(ENSG00000284959):n.321+1130G>A 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 0.113 in 152,200 control chromosomes in the GnomAD database, including 1,172 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 |
---|---|---|---|---|---|---|---|
LOC101928462 | XR_001751022.2 | n.298+1130G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105370594 | XR_944073.3 | n.32+176C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000646052.2 | n.321+1130G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000646928.1 | n.306+1130G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000652775.1 | n.321+1130G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000654681.1 | n.265+1130G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.113 AC: 17194AN: 152082Hom.: 1172 Cov.: 33
GnomAD4 genome ? AF: 0.113 AC: 17205AN: 152200Hom.: 1172 Cov.: 33 AF XY: 0.107 AC XY: 7985AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at