chr2-112380827-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001164463.1(RGPD8):c.5058T>G(p.Ile1686Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign 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. I1686T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001164463.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RGPD8 | NM_001164463.1 | c.5058T>G | p.Ile1686Met | missense_variant | Exon 21 of 23 | ENST00000302558.8 | NP_001157935.1 | |
RGPD8 | XM_024453101.2 | c.4980T>G | p.Ile1660Met | missense_variant | Exon 21 of 23 | XP_024308869.1 | ||
RGPD8 | XM_047445676.1 | c.4203T>G | p.Ile1401Met | missense_variant | Exon 16 of 18 | XP_047301632.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RGPD8 | ENST00000302558.8 | c.5058T>G | p.Ile1686Met | missense_variant | Exon 21 of 23 | 1 | NM_001164463.1 | ENSP00000306637.3 | ||
RGPD8 | ENST00000409750.5 | c.4638T>G | p.Ile1546Met | missense_variant | Exon 20 of 22 | 1 | ENSP00000386511.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 8AN: 140120Hom.: 0 Cov.: 19 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000288 AC: 37AN: 1282546Hom.: 0 Cov.: 30 AF XY: 0.0000313 AC XY: 20AN XY: 639462
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000571 AC: 8AN: 140120Hom.: 0 Cov.: 19 AF XY: 0.0000885 AC XY: 6AN XY: 67820
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5058T>G (p.I1686M) alteration is located in exon 21 (coding exon 21) of the RGPD8 gene. This alteration results from a T to G substitution at nucleotide position 5058, causing the isoleucine (I) at amino acid position 1686 to be replaced by a methionine (M). 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