17-63831071-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM2PP3_ModerateBS2
The NM_002805.6(PSMC5):c.715C>T(p.Arg239Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000353 in 1,414,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002805.6 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 |
---|---|---|---|---|---|---|---|---|
PSMC5 | NM_002805.6 | c.715C>T | p.Arg239Trp | missense_variant | Exon 8 of 12 | ENST00000310144.11 | NP_002796.4 | |
PSMC5 | NM_001199163.2 | c.691C>T | p.Arg231Trp | missense_variant | Exon 8 of 12 | NP_001186092.1 | ||
PSMC5 | XM_047436423.1 | c.731C>T | p.Thr244Met | missense_variant | Exon 8 of 8 | XP_047292379.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000353 AC: 5AN: 1414852Hom.: 0 Cov.: 41 AF XY: 0.00000286 AC XY: 2AN XY: 698528
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.715C>T (p.R239W) alteration is located in exon 8 (coding exon 8) of the PSMC5 gene. This alteration results from a C to T substitution at nucleotide position 715, causing the arginine (R) at amino acid position 239 to be replaced by a tryptophan (W). 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
Publications
No publications associated with this variant yet.