rs200497052
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013342.4(TFPT):āc.590G>Cā(p.Arg197Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000712 in 1,405,270 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_013342.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TFPT | NM_013342.4 | c.590G>C | p.Arg197Pro | missense_variant | Exon 5 of 6 | ENST00000391759.6 | NP_037474.1 | |
TFPT | NM_001321792.2 | c.563G>C | p.Arg188Pro | missense_variant | Exon 5 of 6 | NP_001308721.1 | ||
TFPT | XM_005278261.2 | c.230G>C | p.Arg77Pro | missense_variant | Exon 4 of 5 | XP_005278318.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.12e-7 AC: 1AN: 1405270Hom.: 0 Cov.: 33 AF XY: 0.00000144 AC XY: 1AN XY: 693680
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.