10-133263190-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001109.5(ADAM8):c.2441G>A(p.Arg814Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,613,504 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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.2441G>A | p.Arg814Lys | missense_variant | Exon 23 of 23 | 1 | NM_001109.5 | ENSP00000453302.1 | ||
ADAM8 | ENST00000415217 | c.*45G>A | 3_prime_UTR_variant | Exon 22 of 22 | 1 | ENSP00000453855.1 | ||||
ADAM8 | ENST00000485491.6 | c.2168G>A | p.Arg723Lys | missense_variant | Exon 20 of 20 | 2 | ENSP00000453043.1 | |||
ADAM8 | ENST00000559018.1 | n.222G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152242Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.000172 AC: 43AN: 249852Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135180
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461262Hom.: 1 Cov.: 32 AF XY: 0.0000248 AC XY: 18AN XY: 726924
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152242Hom.: 0 Cov.: 35 AF XY: 0.0000941 AC XY: 7AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2441G>A (p.R814K) alteration is located in exon 23 (coding exon 23) of the ADAM8 gene. This alteration results from a G to A substitution at nucleotide position 2441, causing the arginine (R) at amino acid position 814 to be replaced by a lysine (K). 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