1-26994384-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001013642.3(TRNP1):āc.598G>Cā(p.Gly200Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000672 in 148,918 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 (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar.
Frequency
Consequence
NM_001013642.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRNP1 | NM_001013642.3 | c.598G>C | p.Gly200Arg | missense_variant | 1/2 | ENST00000522111.3 | |
TRNP1 | XM_005245867.4 | c.598G>C | p.Gly200Arg | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRNP1 | ENST00000522111.3 | c.598G>C | p.Gly200Arg | missense_variant | 1/2 | 1 | NM_001013642.3 | P1 | |
TRNP1 | ENST00000531285.1 | c.67G>C | p.Gly23Arg | missense_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000672 AC: 1AN: 148918Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000672 AC: 1AN: 148918Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72556
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 22, 2023 | The c.598G>C (p.G200R) alteration is located in exon 1 (coding exon 1) of the TRNP1 gene. This alteration results from a G to C substitution at nucleotide position 598, causing the glycine (G) at amino acid position 200 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