rs1484960
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000526179.1(ENSG00000255279):n.209+2063C>G 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 0.456 in 151,836 control chromosomes in the GnomAD database, including 18,486 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 |
---|---|---|---|---|---|---|---|
LOC105376639 | XR_931213.4 | n.470-1145G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105376639 | XR_931214.3 | n.466-1145G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105376639 | XR_931215.3 | n.298-1145G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105376639 | XR_931216.3 | n.469+1159G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000526179.1 | n.209+2063C>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000532199.1 | n.365+2063C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.456 AC: 69109AN: 151718Hom.: 18456 Cov.: 32
GnomAD4 genome AF: 0.456 AC: 69178AN: 151836Hom.: 18486 Cov.: 32 AF XY: 0.447 AC XY: 33162AN XY: 74196
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at