chr7-2702814-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001384743.1(AMZ1):c.397C>T(p.Pro133Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000257 in 1,554,178 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P133L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001384743.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AMZ1 | NM_001384743.1 | c.397C>T | p.Pro133Ser | missense_variant | Exon 3 of 7 | ENST00000683327.1 | NP_001371672.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152204Hom.: 0 Cov.: 33
GnomAD4 exome AF: 7.13e-7 AC: 1AN: 1401974Hom.: 0 Cov.: 31 AF XY: 0.00000144 AC XY: 1AN XY: 693196
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at