5-95656077-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001131066.2(RFESD):c.401C>G(p.Pro134Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000175 in 1,613,388 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. 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. P134S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001131066.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RFESD | NM_001131066.2 | c.401C>G | p.Pro134Arg | missense_variant | 6/6 | ENST00000380005.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RFESD | ENST00000380005.9 | c.401C>G | p.Pro134Arg | missense_variant | 6/6 | 2 | NM_001131066.2 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000559 AC: 14AN: 250614Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135448
GnomAD4 exome AF: 0.000179 AC: 261AN: 1461294Hom.: 1 Cov.: 31 AF XY: 0.000188 AC XY: 137AN XY: 726964
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152094Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 06, 2022 | The c.401C>G (p.P134R) alteration is located in exon 6 (coding exon 5) of the RFESD gene. This alteration results from a C to G substitution at nucleotide position 401, causing the proline (P) at amino acid position 134 to be replaced by an arginine (R). 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