14-18967817-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001145442.1(POTEM):c.332G>A(p.Gly111Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000956 in 104,572 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001145442.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POTEM | NM_001145442.1 | c.332G>A | p.Gly111Glu | missense_variant | 1/11 | ENST00000547889.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POTEM | ENST00000547889.6 | c.332G>A | p.Gly111Glu | missense_variant | 1/11 | 1 | NM_001145442.1 | P1 | |
POTEM | ENST00000616847.1 | c.332G>A | p.Gly111Glu | missense_variant, NMD_transcript_variant | 1/12 | 1 | |||
POTEM | ENST00000552966.5 | c.332G>A | p.Gly111Glu | missense_variant, NMD_transcript_variant | 1/12 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000956 AC: 1AN: 104572Hom.: 0 Cov.: 24
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000281 AC: 4AN: 1421360Hom.: 0 Cov.: 39 AF XY: 0.00000141 AC XY: 1AN XY: 708456
GnomAD4 genome AF: 0.00000956 AC: 1AN: 104572Hom.: 0 Cov.: 24 AF XY: 0.0000197 AC XY: 1AN XY: 50754
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 10, 2023 | The c.332G>A (p.G111E) alteration is located in exon 1 (coding exon 1) of the POTEM gene. This alteration results from a G to A substitution at nucleotide position 332, causing the glycine (G) at amino acid position 111 to be replaced by a glutamic acid (E). 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