chr13-33830776-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002915.4(RFC3):c.631C>G(p.Leu211Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002915.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RFC3 | NM_002915.4 | c.631C>G | p.Leu211Val | missense_variant | 6/9 | ENST00000380071.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RFC3 | ENST00000380071.8 | c.631C>G | p.Leu211Val | missense_variant | 6/9 | 1 | NM_002915.4 | P1 | |
RFC3 | ENST00000434425.5 | c.631C>G | p.Leu211Val | missense_variant | 6/9 | 5 | |||
RFC3 | ENST00000616236.1 | c.25C>G | p.Leu9Val | missense_variant | 1/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251062Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135684
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1460938Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 726824
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2022 | The c.631C>G (p.L211V) alteration is located in exon 6 (coding exon 6) of the RFC3 gene. This alteration results from a C to G substitution at nucleotide position 631, causing the leucine (L) at amino acid position 211 to be replaced by a valine (V). 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