9-98306256-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_005458.8(GABBR2):c.2094C>A(p.Asn698Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,214 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005458.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABBR2 | NM_005458.8 | c.2094C>A | p.Asn698Lys | missense_variant | Exon 15 of 19 | ENST00000259455.4 | NP_005449.5 | |
GABBR2 | XM_017015331.3 | c.1800C>A | p.Asn600Lys | missense_variant | Exon 14 of 18 | XP_016870820.1 | ||
GABBR2 | XM_005252316.6 | c.1320C>A | p.Asn440Lys | missense_variant | Exon 13 of 17 | XP_005252373.1 | ||
GABBR2 | XM_017015332.3 | c.1320C>A | p.Asn440Lys | missense_variant | Exon 12 of 16 | XP_016870821.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at