rs6633380
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000454189.7(GPM6B):c.5-42251A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.278 in 110,199 control chromosomes in the GnomAD database, including 3,310 homozygotes. There are 9,126 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.5-42251A>G | intron_variant | ||||
GPM6B | NM_001318729.2 | c.5-42251A>G | intron_variant | ||||
GPM6B | XM_011545497.3 | c.5-20290A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPM6B | ENST00000454189.7 | c.5-42251A>G | intron_variant | 1 | A1 | ||||
GPM6B | ENST00000398361.7 | c.-197-42251A>G | intron_variant | 2 | |||||
GPM6B | ENST00000468080.1 | c.-197-42251A>G | intron_variant | 4 | |||||
GPM6B | ENST00000493085.5 | c.-197-42251A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.278 AC: 30588AN: 110143Hom.: 3302 Cov.: 21 AF XY: 0.281 AC XY: 9104AN XY: 32437
GnomAD4 genome AF: 0.278 AC: 30617AN: 110199Hom.: 3310 Cov.: 21 AF XY: 0.281 AC XY: 9126AN XY: 32503
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at