17-4948298-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_005022.4(PFN1):c.97G>A(p.Ala33Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_005022.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PFN1 | ENST00000225655.6 | c.97G>A | p.Ala33Thr | missense_variant | Exon 1 of 3 | 1 | NM_005022.4 | ENSP00000225655.5 | ||
PFN1 | ENST00000572383.1 | c.334G>A | p.Ala112Thr | missense_variant | Exon 2 of 3 | 3 | ENSP00000460363.1 | |||
ENO3 | ENST00000520221 | c.-78C>T | 5_prime_UTR_variant | Exon 1 of 7 | 5 | ENSP00000467444.1 | ||||
ENO3 | ENST00000519266 | c.-52C>T | 5_prime_UTR_variant | Exon 1 of 2 | 3 | ENSP00000467270.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
PFN1-related disorder Uncertain:1
The PFN1 c.97G>A variant is predicted to result in the amino acid substitution p.Ala33Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.