11-123577441-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001387025.1(GRAMD1B):āc.527C>Gā(p.Pro176Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,450,634 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P176Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001387025.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRAMD1B | NM_001387025.1 | c.527C>G | p.Pro176Arg | missense_variant | Exon 3 of 20 | ENST00000635736.2 | NP_001373954.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRAMD1B | ENST00000635736.2 | c.527C>G | p.Pro176Arg | missense_variant | Exon 3 of 20 | 5 | NM_001387025.1 | ENSP00000490062.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1450634Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 720414
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.