1-103691591-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001008218.2(AMY1B):c.898G>A(p.Gly300Ser) variant causes a missense change. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001008218.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMY1B | ENST00000330330.10 | c.898G>A | p.Gly300Ser | missense_variant | Exon 7 of 11 | 1 | NM_001008218.2 | ENSP00000330484.5 | ||
AMY1B | ENST00000370080.7 | c.898G>A | p.Gly300Ser | missense_variant | Exon 7 of 11 | 2 | ENSP00000359097.3 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 24326Hom.: 0 Cov.: 0 FAILED QC
GnomAD3 exomes AF: 0.000145 AC: 12AN: 82888Hom.: 4 AF XY: 0.000244 AC XY: 11AN XY: 45072
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000152 AC: 77AN: 507832Hom.: 25 Cov.: 4 AF XY: 0.000180 AC XY: 47AN XY: 261148
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000411 AC: 1AN: 24326Hom.: 0 Cov.: 0 AF XY: 0.0000860 AC XY: 1AN XY: 11632
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.898G>A (p.G300S) alteration is located in exon 7 (coding exon 6) of the AMY1B gene. This alteration results from a G to A substitution at nucleotide position 898, causing the glycine (G) at amino acid position 300 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at