rs11798108
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000454189.7(GPM6B):c.4+24841G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.41 in 111,247 control chromosomes in the GnomAD database, including 7,883 homozygotes. There are 13,359 hemizygotes in GnomAD. 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
ENST00000454189.7 intron
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 |
---|---|---|---|---|---|---|---|
GPM6B | NM_001001994.3 | c.4+24841G>A | intron_variant | ||||
GPM6B | NM_001318729.2 | c.4+24841G>A | intron_variant | ||||
GPM6B | XM_011545497.3 | c.4+24841G>A | intron_variant | ||||
GPM6B | XM_017029432.2 | c.4+24841G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPM6B | ENST00000454189.7 | c.4+24841G>A | intron_variant | 1 | A1 | ||||
GPM6B | ENST00000398361.7 | c.-198+24661G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.410 AC: 45592AN: 111196Hom.: 7888 Cov.: 23 AF XY: 0.399 AC XY: 13346AN XY: 33432
GnomAD4 genome ? AF: 0.410 AC: 45591AN: 111247Hom.: 7883 Cov.: 23 AF XY: 0.399 AC XY: 13359AN XY: 33493
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at