9-137192511-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001128228.3(TPRN):c.1906C>G(p.Arg636Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,796 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R636W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001128228.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TPRN | NM_001128228.3 | c.1906C>G | p.Arg636Gly | missense_variant | 2/4 | ENST00000409012.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TPRN | ENST00000409012.6 | c.1906C>G | p.Arg636Gly | missense_variant | 2/4 | 1 | NM_001128228.3 | P1 | |
TPRN | ENST00000477345.1 | n.2627C>G | non_coding_transcript_exon_variant | 1/3 | 1 | ||||
TPRN | ENST00000333046.8 | c.1300C>G | p.Arg434Gly | missense_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453796Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 722640
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at