chr6-27310176-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033482.4(POM121L2):c.1995C>A(p.Phe665Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000198 in 1,551,960 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 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
Genome browser will be placed here
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.1995C>A | p.Phe665Leu | missense_variant | 1/1 | ENST00000444565.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POM121L2 | ENST00000444565.2 | c.1995C>A | p.Phe665Leu | missense_variant | 1/1 | NM_033482.4 | P1 | ||
POM121L2 | ENST00000429945.1 | c.216+921C>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000824 AC: 13AN: 157820Hom.: 0 AF XY: 0.0000600 AC XY: 5AN XY: 83372
GnomAD4 exome AF: 0.000210 AC: 294AN: 1399718Hom.: 0 Cov.: 61 AF XY: 0.000184 AC XY: 127AN XY: 690352
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 10, 2023 | The c.1995C>A (p.F665L) alteration is located in exon 1 (coding exon 1) of the POM121L2 gene. This alteration results from a C to A substitution at nucleotide position 1995, causing the phenylalanine (F) at amino acid position 665 to be replaced by a leucine (L). 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