rs4388209
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000648070.1(ENSG00000250602):n.896-29051A>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 0.72 in 152,064 control chromosomes in the GnomAD database, including 39,902 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 |
---|---|---|---|---|---|---|---|
GRAMD2B | NM_001146319.3 | c.129-42745T>C | intron_variant | ||||
GRAMD2B | XM_005272057.5 | c.126-42745T>C | intron_variant | ||||
GRAMD2B | XM_005272058.5 | c.126-42745T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000648070.1 | n.896-29051A>G | intron_variant, non_coding_transcript_variant | |||||||
GRAMD2B | ENST00000506445.5 | c.126-42745T>C | intron_variant | 5 | |||||
GRAMD2B | ENST00000513040.5 | c.129-42745T>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.720 AC: 109414AN: 151946Hom.: 39847 Cov.: 32
GnomAD4 genome AF: 0.720 AC: 109529AN: 152064Hom.: 39902 Cov.: 32 AF XY: 0.718 AC XY: 53374AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at