5-126402275-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000648070.1(ENSG00000250602):n.896-8645T>C 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 0.958 in 152,188 control chromosomes in the GnomAD database, including 69,843 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRAMD2B | NM_001146319.3 | c.128+41816A>G | intron_variant | ||||
GRAMD2B | XM_005272057.5 | c.125+30708A>G | intron_variant | ||||
GRAMD2B | XM_005272058.5 | c.125+30708A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000648070.1 | n.896-8645T>C | intron_variant, non_coding_transcript_variant | |||||||
GRAMD2B | ENST00000506445.5 | c.125+30708A>G | intron_variant | 5 | |||||
GRAMD2B | ENST00000513040.5 | c.128+41816A>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.958 AC: 145682AN: 152070Hom.: 69791 Cov.: 32
GnomAD4 genome ? AF: 0.958 AC: 145793AN: 152188Hom.: 69843 Cov.: 32 AF XY: 0.959 AC XY: 71388AN XY: 74424
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at