chr2-9490215-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003183.6(ADAM17):c.2437C>T(p.Arg813Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000137 in 1,600,180 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R813H) has been classified as Uncertain significance.
Frequency
Consequence
NM_003183.6 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 |
---|---|---|---|---|---|---|---|
ADAM17 | NM_003183.6 | c.2437C>T | p.Arg813Cys | missense_variant | 19/19 | ENST00000310823.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAM17 | ENST00000310823.8 | c.2437C>T | p.Arg813Cys | missense_variant | 19/19 | 1 | NM_003183.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251210Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135750
GnomAD4 exome AF: 0.0000131 AC: 19AN: 1447834Hom.: 0 Cov.: 31 AF XY: 0.0000181 AC XY: 13AN XY: 716650
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152346Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74506
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.2437C>T (p.R813C) alteration is located in exon 19 (coding exon 19) of the ADAM17 gene. This alteration results from a C to T substitution at nucleotide position 2437, causing the arginine (R) at amino acid position 813 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Inflammatory skin and bowel disease, neonatal, 1 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 24, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at