rs1554689313
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PP2PP3_ModeratePP5_Moderate
The NM_005458.8(GABBR2):c.2119G>A(p.Ala707Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. A707A) has been classified as Likely benign.
Frequency
Consequence
NM_005458.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABBR2 | NM_005458.8 | c.2119G>A | p.Ala707Thr | missense_variant | 15/19 | ENST00000259455.4 | |
GABBR2 | XM_017015331.3 | c.1825G>A | p.Ala609Thr | missense_variant | 14/18 | ||
GABBR2 | XM_005252316.6 | c.1345G>A | p.Ala449Thr | missense_variant | 13/17 | ||
GABBR2 | XM_017015332.3 | c.1345G>A | p.Ala449Thr | missense_variant | 12/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABBR2 | ENST00000259455.4 | c.2119G>A | p.Ala707Thr | missense_variant | 15/19 | 1 | NM_005458.8 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with poor language and loss of hand skills Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 15, 2018 | - - |
Developmental and epileptic encephalopathy, 59 Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Laboratory of Medical Genetics, National & Kapodistrian University of Athens | Oct 01, 2021 | PM2, PM6, PP3, PP4, PP5 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at