6-27309304-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033482.4(POM121L2):c.2867G>C(p.Gly956Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000309 in 1,551,040 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_033482.4 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 |
---|---|---|---|---|---|---|---|
POM121L2 | NM_033482.4 | c.2867G>C | p.Gly956Ala | missense_variant | 1/1 | ENST00000444565.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POM121L2 | ENST00000444565.2 | c.2867G>C | p.Gly956Ala | missense_variant | 1/1 | NM_033482.4 | P1 | ||
POM121L2 | ENST00000429945.1 | c.216+1793G>C | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000639 AC: 1AN: 156484Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82768
GnomAD4 exome AF: 0.0000193 AC: 27AN: 1398900Hom.: 0 Cov.: 31 AF XY: 0.0000145 AC XY: 10AN XY: 689916
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2022 | The c.2867G>C (p.G956A) alteration is located in exon 1 (coding exon 1) of the POM121L2 gene. This alteration results from a G to C substitution at nucleotide position 2867, causing the glycine (G) at amino acid position 956 to be replaced by an alanine (A). 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