chr15-58597594-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP4BS2
The NM_001110.4(ADAM10):c.2200C>A(p.Arg734Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00012 in 1,614,010 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. R734C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001110.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAM10 | NM_001110.4 | c.2200C>A | p.Arg734Ser | missense_variant | 16/16 | ENST00000260408.8 | |
ADAM10 | NM_001320570.2 | c.2107C>A | p.Arg703Ser | missense_variant | 15/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAM10 | ENST00000260408.8 | c.2200C>A | p.Arg734Ser | missense_variant | 16/16 | 1 | NM_001110.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251414Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135886
GnomAD4 exome AF: 0.000122 AC: 178AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.000117 AC XY: 85AN XY: 727242
GnomAD4 genome AF: 0.000105 AC: 16AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74326
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.2200C>A (p.R734S) alteration is located in exon 16 (coding exon 16) of the ADAM10 gene. This alteration results from a C to A substitution at nucleotide position 2200, causing the arginine (R) at amino acid position 734 to be replaced by a serine (S). 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