1-201996202-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020216.4(RNPEP):c.793G>A(p.Gly265Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,614,044 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020216.4 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 |
---|---|---|---|---|---|---|---|---|
RNPEP | NM_020216.4 | c.793G>A | p.Gly265Arg | missense_variant | Exon 4 of 11 | ENST00000295640.9 | NP_064601.3 | |
RNPEP | NM_001319182.2 | c.400G>A | p.Gly134Arg | missense_variant | Exon 4 of 11 | NP_001306111.1 | ||
RNPEP | NM_001319183.2 | c.-224G>A | 5_prime_UTR_variant | Exon 3 of 10 | NP_001306112.1 | |||
RNPEP | NM_001319184.2 | c.-78G>A | 5_prime_UTR_variant | Exon 3 of 10 | NP_001306113.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461876Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727234
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.793G>A (p.G265R) alteration is located in exon 4 (coding exon 4) of the RNPEP gene. This alteration results from a G to A substitution at nucleotide position 793, causing the glycine (G) at amino acid position 265 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