chr6-30604068-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002714.4(PPP1R10):c.1448G>A(p.Arg483Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000806 in 1,613,668 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_002714.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP1R10 | NM_002714.4 | c.1448G>A | p.Arg483Gln | missense_variant | 14/20 | ENST00000376511.7 | |
PPP1R10 | NM_001376195.1 | c.1448G>A | p.Arg483Gln | missense_variant | 14/20 | ||
PPP1R10 | XM_011514722.2 | c.1448G>A | p.Arg483Gln | missense_variant | 15/21 | ||
PPP1R10 | NR_072994.2 | n.1939G>A | non_coding_transcript_exon_variant | 14/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R10 | ENST00000376511.7 | c.1448G>A | p.Arg483Gln | missense_variant | 14/20 | 1 | NM_002714.4 | P1 | |
PPP1R10 | ENST00000496955.1 | n.145G>A | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 152020Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250854Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135566
GnomAD4 exome AF: 0.0000814 AC: 119AN: 1461648Hom.: 0 Cov.: 34 AF XY: 0.0000825 AC XY: 60AN XY: 727124
GnomAD4 genome AF: 0.0000724 AC: 11AN: 152020Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74246
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 29, 2023 | The c.1448G>A (p.R483Q) alteration is located in exon 14 (coding exon 12) of the PPP1R10 gene. This alteration results from a G to A substitution at nucleotide position 1448, causing the arginine (R) at amino acid position 483 to be replaced by a glutamine (Q). 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