7-72926449-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001387691.1(POM121):c.832C>T(p.Pro278Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001387691.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POM121 | NM_001387691.1 | c.832C>T | p.Pro278Ser | missense_variant | Exon 2 of 13 | ENST00000434423.5 | NP_001374620.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POM121 | ENST00000434423.5 | c.832C>T | p.Pro278Ser | missense_variant | Exon 2 of 13 | 5 | NM_001387691.1 | ENSP00000405562.2 | ||
POM121 | ENST00000395270.5 | c.37C>T | p.Pro13Ser | missense_variant | Exon 5 of 16 | 1 | ENSP00000378687.1 | |||
POM121 | ENST00000627934.3 | c.37C>T | p.Pro13Ser | missense_variant | Exon 4 of 15 | 5 | ENSP00000486504.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.37C>T (p.P13S) alteration is located in exon 4 (coding exon 1) of the POM121 gene. This alteration results from a C to T substitution at nucleotide position 37, causing the proline (P) at amino acid position 13 to be replaced by a serine (S). 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