chr8-98127649-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001145860.2(POP1):c.197T>C(p.Leu66Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001145860.2 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 |
---|---|---|---|---|---|---|---|
POP1 | NM_001145860.2 | c.197T>C | p.Leu66Pro | missense_variant | 3/16 | ENST00000401707.7 | |
POP1 | NM_001145861.2 | c.197T>C | p.Leu66Pro | missense_variant | 3/16 | ||
POP1 | NM_015029.3 | c.197T>C | p.Leu66Pro | missense_variant | 3/16 | ||
POP1 | XM_011516801.3 | c.197T>C | p.Leu66Pro | missense_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POP1 | ENST00000401707.7 | c.197T>C | p.Leu66Pro | missense_variant | 3/16 | 2 | NM_001145860.2 | P1 | |
POP1 | ENST00000349693.3 | c.197T>C | p.Leu66Pro | missense_variant | 3/16 | 1 | P1 | ||
POP1 | ENST00000522319.5 | c.197T>C | p.Leu66Pro | missense_variant | 3/5 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 12, 2023 | The c.197T>C (p.L66P) alteration is located in exon 3 (coding exon 2) of the POP1 gene. This alteration results from a T to C substitution at nucleotide position 197, causing the leucine (L) at amino acid position 66 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.