chr4-48988609-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_025087.3(CWH43):c.176C>G(p.Pro59Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000837 in 1,613,130 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_025087.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CWH43 | ENST00000226432.9 | c.176C>G | p.Pro59Arg | missense_variant | Exon 2 of 16 | 1 | NM_025087.3 | ENSP00000226432.4 | ||
CWH43 | ENST00000513409.1 | c.95C>G | p.Pro32Arg | missense_variant | Exon 2 of 16 | 2 | ENSP00000422802.1 | |||
CWH43 | ENST00000514053.6 | n.176C>G | non_coding_transcript_exon_variant | Exon 2 of 14 | 5 | ENSP00000425157.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000797 AC: 20AN: 250944Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135660
GnomAD4 exome AF: 0.0000897 AC: 131AN: 1461014Hom.: 0 Cov.: 31 AF XY: 0.0000881 AC XY: 64AN XY: 726846
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.176C>G (p.P59R) alteration is located in exon 2 (coding exon 2) of the CWH43 gene. This alteration results from a C to G substitution at nucleotide position 176, causing the proline (P) at amino acid position 59 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