10-133263173-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001109.5(ADAM8):c.2458G>T(p.Ala820Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000657 in 1,613,898 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. 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. A820T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001109.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAM8 | ENST00000445355.8 | c.2458G>T | p.Ala820Ser | missense_variant | Exon 23 of 23 | 1 | NM_001109.5 | ENSP00000453302.1 | ||
ADAM8 | ENST00000415217 | c.*62G>T | 3_prime_UTR_variant | Exon 22 of 22 | 1 | ENSP00000453855.1 | ||||
ADAM8 | ENST00000485491.6 | c.2185G>T | p.Ala729Ser | missense_variant | Exon 20 of 20 | 2 | ENSP00000453043.1 | |||
ADAM8 | ENST00000559018.1 | n.239G>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000374 AC: 57AN: 152248Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.0000599 AC: 15AN: 250544Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135500
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461532Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727062
GnomAD4 genome AF: 0.000368 AC: 56AN: 152366Hom.: 0 Cov.: 35 AF XY: 0.000282 AC XY: 21AN XY: 74504
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at