chrX-153058232-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_013364.6(PNMA3):c.1177C>G(p.Arg393Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,097,995 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013364.6 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PNMA3 | NM_013364.6 | c.1177C>G | p.Arg393Gly | missense_variant | 2/2 | ENST00000593810.3 | |
PNMA3 | NM_001282535.2 | c.1177C>G | p.Arg393Gly | missense_variant | 2/3 | ||
PNMA3 | XR_938508.4 | n.1452C>G | non_coding_transcript_exon_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PNMA3 | ENST00000593810.3 | c.1177C>G | p.Arg393Gly | missense_variant | 2/2 | NM_013364.6 | P1 | ||
PNMA3 | ENST00000619635.1 | c.1177C>G | p.Arg393Gly | missense_variant | 2/3 | 1 | |||
PNMA3 | ENST00000424805.1 | c.1177C>G | p.Arg393Gly | missense_variant, NMD_transcript_variant | 2/3 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD3 exomes AF: 0.00000548 AC: 1AN: 182379Hom.: 0 AF XY: 0.0000149 AC XY: 1AN XY: 67205
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097995Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 1AN XY: 363367
GnomAD4 genome ? Cov.: 24
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 15, 2021 | The c.1177C>G (p.R393G) alteration is located in exon 2 (coding exon 1) of the PNMA3 gene. This alteration results from a C to G substitution at nucleotide position 1177, causing the arginine (R) at amino acid position 393 to be replaced by a glycine (G). 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