rs596356
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004038.4(AMY1A):c.1001+4A>G variant causes a splice region, intron 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. 1/1 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_004038.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AMY1A | NM_004038.4 | c.1001+4A>G | splice_region_variant, intron_variant | Intron 7 of 10 | ENST00000370083.9 | NP_004029.2 | ||
AMY1A | NM_001008221.1 | c.1001+4A>G | splice_region_variant, intron_variant | Intron 7 of 10 | NP_001008222.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 17
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 17
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at