rs10490924
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001099667.3(ARMS2):c.205G>C(p.Ala69Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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_001099667.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARMS2 | ENST00000528446.1 | c.205G>C | p.Ala69Pro | missense_variant | Exon 1 of 2 | 1 | NM_001099667.3 | ENSP00000436682.1 | ||
ENSG00000285955 | ENST00000647969.1 | n.182+3563C>G | intron_variant | Intron 1 of 1 | ||||||
ENSG00000285955 | ENST00000650300.1 | n.1852+3563C>G | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 36
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at