rs1422795
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_033274.5(ADAM19):āc.850A>Gā(p.Ser284Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.362 in 1,612,026 control chromosomes in the GnomAD database, including 110,973 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_033274.5 missense
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 |
---|---|---|---|---|---|---|---|
ADAM19 | NM_033274.5 | c.850A>G | p.Ser284Gly | missense_variant | 9/23 | ENST00000257527.9 | |
ADAM19 | XM_047417858.1 | c.850A>G | p.Ser284Gly | missense_variant | 9/22 | ||
ADAM19 | XM_047417859.1 | c.49A>G | p.Ser17Gly | missense_variant | 2/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAM19 | ENST00000257527.9 | c.850A>G | p.Ser284Gly | missense_variant | 9/23 | 1 | NM_033274.5 | P1 | |
ADAM19 | ENST00000517905.1 | c.850A>G | p.Ser284Gly | missense_variant | 9/22 | 5 | |||
ADAM19 | ENST00000517951.5 | c.*41A>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/23 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.418 AC: 63455AN: 151962Hom.: 14349 Cov.: 33
GnomAD3 exomes AF: 0.380 AC: 95007AN: 250186Hom.: 19371 AF XY: 0.380 AC XY: 51420AN XY: 135222
GnomAD4 exome AF: 0.356 AC: 519671AN: 1459946Hom.: 96592 Cov.: 37 AF XY: 0.360 AC XY: 261153AN XY: 726200
GnomAD4 genome ? AF: 0.418 AC: 63541AN: 152080Hom.: 14381 Cov.: 33 AF XY: 0.419 AC XY: 31143AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at