chr20-3671667-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025220.5(ADAM33):c.1819C>T(p.Arg607Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000196 in 1,582,298 control chromosomes in the GnomAD database, including 1 homozygotes. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R607Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_025220.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAM33 | NM_025220.5 | c.1819C>T | p.Arg607Trp | missense_variant | 16/22 | ENST00000356518.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAM33 | ENST00000356518.7 | c.1819C>T | p.Arg607Trp | missense_variant | 16/22 | 1 | NM_025220.5 | P4 | |
ADAM33 | ENST00000379861.8 | c.1819C>T | p.Arg607Trp | missense_variant | 16/22 | 1 | A2 | ||
ADAM33 | ENST00000466620.5 | n.1458C>T | non_coding_transcript_exon_variant | 6/11 | 1 | ||||
ADAM33 | ENST00000350009.6 | c.1819C>T | p.Arg607Trp | missense_variant | 16/21 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152188Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000403 AC: 8AN: 198660Hom.: 0 AF XY: 0.0000187 AC XY: 2AN XY: 107222
GnomAD4 exome AF: 0.0000168 AC: 24AN: 1429992Hom.: 1 Cov.: 35 AF XY: 0.0000183 AC XY: 13AN XY: 708960
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152306Hom.: 0 Cov.: 34 AF XY: 0.0000537 AC XY: 4AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2022 | The c.1819C>T (p.R607W) alteration is located in exon 16 (coding exon 16) of the ADAM33 gene. This alteration results from a C to T substitution at nucleotide position 1819, causing the arginine (R) at amino acid position 607 to be replaced by a tryptophan (W). 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