rs1554688978
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_005458.8(GABBR2):c.2282A>G(p.Gln761Arg) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. Q761Q) has been classified as Likely benign.
Frequency
Consequence
NM_005458.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABBR2 | NM_005458.8 | c.2282A>G | p.Gln761Arg | missense_variant | 16/19 | ENST00000259455.4 | |
GABBR2 | XM_017015331.3 | c.1988A>G | p.Gln663Arg | missense_variant | 15/18 | ||
GABBR2 | XM_005252316.6 | c.1508A>G | p.Gln503Arg | missense_variant | 14/17 | ||
GABBR2 | XM_017015332.3 | c.1508A>G | p.Gln503Arg | missense_variant | 13/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABBR2 | ENST00000259455.4 | c.2282A>G | p.Gln761Arg | missense_variant | 16/19 | 1 | NM_005458.8 | P1 | |
GABBR2 | ENST00000634457.1 | c.509A>G | p.Gln170Arg | missense_variant | 4/4 | 5 | |||
GABBR2 | ENST00000637410.1 | n.2060A>G | non_coding_transcript_exon_variant | 16/19 | 5 | ||||
GABBR2 | ENST00000636575.1 | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at