rs147254848
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_152657.4(GGN):c.1826G>T(p.Arg609Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R609H) has been classified as Uncertain significance.
Frequency
Consequence
NM_152657.4 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 |
---|---|---|---|---|---|---|---|---|
GGN | NM_152657.4 | c.1826G>T | p.Arg609Leu | missense_variant | Exon 3 of 4 | ENST00000334928.11 | NP_689870.3 | |
GGN | XM_005258619.5 | c.1826G>T | p.Arg609Leu | missense_variant | Exon 3 of 4 | XP_005258676.1 | ||
GGN | XM_017026451.2 | c.1826G>T | p.Arg609Leu | missense_variant | Exon 2 of 3 | XP_016881940.1 | ||
GGN | XM_011526603.3 | c.1577G>T | p.Arg526Leu | missense_variant | Exon 3 of 4 | XP_011524905.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at