11-102268172-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000804907.1(ENSG00000304602):n.82-958G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.236 in 151,912 control chromosomes in the GnomAD database, including 4,445 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
Consequence
ENST00000804907.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105369460 | XR_007062863.1 | n.126-958G>A | intron_variant | Intron 1 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000304602 | ENST00000804907.1 | n.82-958G>A | intron_variant | Intron 1 of 3 | ||||||
ENSG00000304602 | ENST00000804908.1 | n.176+218G>A | intron_variant | Intron 1 of 3 | ||||||
ENSG00000304602 | ENST00000804909.1 | n.161+218G>A | intron_variant | Intron 1 of 3 |
Frequencies
GnomAD3 genomes AF: 0.236 AC: 35834AN: 151796Hom.: 4438 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.236 AC: 35861AN: 151912Hom.: 4445 Cov.: 32 AF XY: 0.238 AC XY: 17658AN XY: 74254 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at