rs798554
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000489665.1(AMZ1):n.550+10345C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.249 in 151,804 control chromosomes in the GnomAD database, including 5,247 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000489665.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AMZ1 | NM_001321766.2 | c.948+10345C>T | intron_variant | ||||
AMZ1 | NM_001384740.1 | c.948+10345C>T | intron_variant | ||||
AMZ1 | NM_001384741.1 | c.778+10345C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AMZ1 | ENST00000489665.1 | n.550+10345C>T | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.250 AC: 37852AN: 151686Hom.: 5245 Cov.: 32
GnomAD4 genome ? AF: 0.249 AC: 37863AN: 151804Hom.: 5247 Cov.: 32 AF XY: 0.252 AC XY: 18716AN XY: 74234
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at