9-98454172-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_005458.8(GABBR2):c.1045G>T(p.Val349Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. V349M) has been classified as Uncertain significance.
Frequency
Consequence
NM_005458.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABBR2 | NM_005458.8 | c.1045G>T | p.Val349Leu | missense_variant | 7/19 | ENST00000259455.4 | |
GABBR2 | XM_017015331.3 | c.751G>T | p.Val251Leu | missense_variant | 6/18 | ||
GABBR2 | XM_005252316.6 | c.271G>T | p.Val91Leu | missense_variant | 5/17 | ||
GABBR2 | XM_017015332.3 | c.271G>T | p.Val91Leu | missense_variant | 4/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABBR2 | ENST00000259455.4 | c.1045G>T | p.Val349Leu | missense_variant | 7/19 | 1 | NM_005458.8 | P1 | |
GABBR2 | ENST00000634919.1 | n.823G>T | non_coding_transcript_exon_variant | 6/6 | 5 | ||||
GABBR2 | ENST00000637410.1 | n.823G>T | non_coding_transcript_exon_variant | 7/19 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461812Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727206
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at