rs55895215
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004108.3(FCN2):c.307C>A(p.Arg103Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,778 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R103C) has been classified as Benign.
Frequency
Consequence
NM_004108.3 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 |
---|---|---|---|---|---|---|---|---|
FCN2 | NM_004108.3 | c.307C>A | p.Arg103Ser | missense_variant | Exon 5 of 8 | ENST00000291744.11 | NP_004099.2 | |
FCN2 | NM_015837.3 | c.193C>A | p.Arg65Ser | missense_variant | Exon 4 of 7 | NP_056652.1 | ||
FCN2 | XM_011518392.4 | c.274C>A | p.Arg92Ser | missense_variant | Exon 5 of 8 | XP_011516694.1 | ||
FCN2 | XM_006717015.5 | c.160C>A | p.Arg54Ser | missense_variant | Exon 4 of 7 | XP_006717078.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461778Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 727214
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.