rs1036811244
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013364.6(PNMA3):c.1024C>A(p.Pro342Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000888 in 112,554 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P342A) has been classified as Uncertain significance.
Frequency
Consequence
NM_013364.6 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 |
---|---|---|---|---|---|---|---|---|
PNMA3 | NM_013364.6 | c.1024C>A | p.Pro342Thr | missense_variant | Exon 2 of 2 | ENST00000593810.3 | NP_037496.4 | |
PNMA3 | NM_001282535.2 | c.1024C>A | p.Pro342Thr | missense_variant | Exon 2 of 3 | NP_001269464.1 | ||
PNMA3 | XR_938508.4 | n.1299C>A | non_coding_transcript_exon_variant | Exon 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PNMA3 | ENST00000593810.3 | c.1024C>A | p.Pro342Thr | missense_variant | Exon 2 of 2 | 6 | NM_013364.6 | ENSP00000469445.1 | ||
PNMA3 | ENST00000619635.1 | c.1024C>A | p.Pro342Thr | missense_variant | Exon 2 of 3 | 1 | ENSP00000480719.1 | |||
PNMA3 | ENST00000424805.1 | n.1024C>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 5 | ENSP00000390576.1 |
Frequencies
GnomAD3 genomes AF: 0.00000888 AC: 1AN: 112554Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34694
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000888 AC: 1AN: 112554Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34694
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at