11-118111765-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019894.4(TMPRSS4):āc.608C>Gā(p.Pro203Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000313 in 1,596,060 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_019894.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMPRSS4 | ENST00000437212.8 | c.608C>G | p.Pro203Arg | missense_variant | Exon 8 of 13 | 1 | NM_019894.4 | ENSP00000416037.3 | ||
TMPRSS4 | ENST00000522824.5 | c.593C>G | p.Pro198Arg | missense_variant | Exon 8 of 13 | 1 | ENSP00000430547.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000208 AC: 3AN: 1443874Hom.: 0 Cov.: 29 AF XY: 0.00000279 AC XY: 2AN XY: 717952
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608C>G (p.P203R) alteration is located in exon 8 (coding exon 8) of the TMPRSS4 gene. This alteration results from a C to G substitution at nucleotide position 608, causing the proline (P) at amino acid position 203 to be replaced by an arginine (R). 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