chr9-98385715-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005458.8(GABBR2):c.1587C>A(p.Leu529=) variant causes a synonymous 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. Synonymous variant affecting the same amino acid position (i.e. L529L) has been classified as Benign.
Frequency
Consequence
NM_005458.8 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GABBR2 | NM_005458.8 | c.1587C>A | p.Leu529= | synonymous_variant | 11/19 | ENST00000259455.4 | |
GABBR2 | XM_017015331.3 | c.1293C>A | p.Leu431= | synonymous_variant | 10/18 | ||
GABBR2 | XM_005252316.6 | c.813C>A | p.Leu271= | synonymous_variant | 9/17 | ||
GABBR2 | XM_017015332.3 | c.813C>A | p.Leu271= | synonymous_variant | 8/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABBR2 | ENST00000259455.4 | c.1587C>A | p.Leu529= | synonymous_variant | 11/19 | 1 | NM_005458.8 | P1 | |
GABBR2 | ENST00000634314.1 | n.92C>A | non_coding_transcript_exon_variant | 2/4 | 3 | ||||
GABBR2 | ENST00000637410.1 | n.1365C>A | non_coding_transcript_exon_variant | 11/19 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.