22-29793608-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032204.5(ASCC2):c.1757G>T(p.Arg586Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000275 in 1,456,330 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032204.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASCC2 | NM_032204.5 | c.1757G>T | p.Arg586Leu | missense_variant | Exon 16 of 20 | ENST00000307790.8 | NP_115580.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1456330Hom.: 0 Cov.: 31 AF XY: 0.00000414 AC XY: 3AN XY: 724336
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1757G>T (p.R586L) alteration is located in exon 16 (coding exon 15) of the ASCC2 gene. This alteration results from a G to T substitution at nucleotide position 1757, causing the arginine (R) at amino acid position 586 to be replaced by a leucine (L). 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.