7-72930023-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001387691.1(POM121):c.1187C>G(p.Ser396Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000616 in 1,461,652 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001387691.1 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 |
---|---|---|---|---|---|---|---|---|
POM121 | NM_001387691.1 | c.1187C>G | p.Ser396Cys | missense_variant | Exon 5 of 13 | ENST00000434423.5 | NP_001374620.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POM121 | ENST00000434423.5 | c.1187C>G | p.Ser396Cys | missense_variant | Exon 5 of 13 | 5 | NM_001387691.1 | ENSP00000405562.2 | ||
POM121 | ENST00000395270.5 | c.392C>G | p.Ser131Cys | missense_variant | Exon 8 of 16 | 1 | ENSP00000378687.1 | |||
POM121 | ENST00000627934.3 | c.392C>G | p.Ser131Cys | missense_variant | Exon 7 of 15 | 5 | ENSP00000486504.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251168Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135736
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461652Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727140
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.392C>G (p.S131C) alteration is located in exon 7 (coding exon 4) of the POM121 gene. This alteration results from a C to G substitution at nucleotide position 392, causing the serine (S) at amino acid position 131 to be replaced by a cysteine (C). 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