chr2-240568806-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018226.6(RNPEPL1):c.220G>C(p.Ala74Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000422 in 946,922 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018226.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNPEPL1 | NM_018226.6 | c.220G>C | p.Ala74Pro | missense_variant | 1/11 | ENST00000270357.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNPEPL1 | ENST00000270357.10 | c.220G>C | p.Ala74Pro | missense_variant | 1/11 | 1 | NM_018226.6 | P1 | |
ANKMY1 | ENST00000418708.3 | c.-122+230C>G | intron_variant | 3 | |||||
RNPEPL1 | ENST00000451363.5 | c.-57+2865G>C | intron_variant | 4 | |||||
ANKMY1 | ENST00000418505.3 | n.174+230C>G | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000422 AC: 4AN: 946922Hom.: 0 Cov.: 31 AF XY: 0.00000666 AC XY: 3AN XY: 450660
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 30, 2023 | The c.220G>C (p.A74P) alteration is located in exon 1 (coding exon 1) of the RNPEPL1 gene. This alteration results from a G to C substitution at nucleotide position 220, causing the alanine (A) at amino acid position 74 to be replaced by a proline (P). 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.