rs11609399
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001354735.1(PFKM):c.5A>C(p.His2Pro) 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. 13/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H2L) has been classified as Benign.
Frequency
Consequence
NM_001354735.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PFKM | NM_001354735.1 | c.5A>C | p.His2Pro | missense_variant | Exon 2 of 26 | NP_001341664.1 | ||
PFKM | NM_001354736.1 | c.5A>C | p.His2Pro | missense_variant | Exon 2 of 26 | NP_001341665.1 | ||
PFKM | NM_001166686.2 | c.5A>C | p.His2Pro | missense_variant | Exon 2 of 25 | NP_001160158.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PFKM | ENST00000642730.1 | c.5A>C | p.His2Pro | missense_variant | Exon 2 of 26 | ENSP00000496597.1 | ||||
PFKM | ENST00000340802.12 | c.5A>C | p.His2Pro | missense_variant | Exon 2 of 25 | 2 | ENSP00000345771.6 | |||
PFKM | ENST00000549366.5 | c.5A>C | p.His2Pro | missense_variant | Exon 2 of 7 | 4 | ENSP00000449622.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at