rs4049844
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001288833.2(GGT1):c.384G>A(p.Gly128=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001288833.2 splice_region, 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 |
---|---|---|---|---|---|---|---|
GGT1 | NM_001288833.2 | c.384G>A | p.Gly128= | splice_region_variant, synonymous_variant | 8/16 | ENST00000400382.6 | |
GGT1 | NM_013421.3 | c.384G>A | p.Gly128= | splice_region_variant, synonymous_variant | 9/17 | ||
GGT1 | NM_013430.3 | c.384G>A | p.Gly128= | splice_region_variant, synonymous_variant | 8/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GGT1 | ENST00000400382.6 | c.384G>A | p.Gly128= | splice_region_variant, synonymous_variant | 8/16 | 2 | NM_001288833.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459410Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726028
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at