1-156239593-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007221.4(PMF1):c.610C>T(p.Pro204Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000822 in 1,459,926 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007221.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250828Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135562
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459926Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726234
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.616C>T (p.P206S) alteration is located in exon 5 (coding exon 5) of the PMF1 gene. This alteration results from a C to T substitution at nucleotide position 616, causing the proline (P) at amino acid position 206 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