chr15-58611090-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001110.4(ADAM10):c.1713C>G(p.Ile571Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. I571V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001110.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAM10 | NM_001110.4 | c.1713C>G | p.Ile571Met | missense_variant | 13/16 | ENST00000260408.8 | |
ADAM10 | NM_001320570.2 | c.1620C>G | p.Ile540Met | missense_variant | 12/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAM10 | ENST00000260408.8 | c.1713C>G | p.Ile571Met | missense_variant | 13/16 | 1 | NM_001110.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 21, 2024 | The c.1713C>G (p.I571M) alteration is located in exon 13 (coding exon 13) of the ADAM10 gene. This alteration results from a C to G substitution at nucleotide position 1713, causing the isoleucine (I) at amino acid position 571 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.