NM_006574.4:c.1372C>A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006574.4(CSPG5):c.1372C>A(p.Arg458Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,646 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. R458C) has been classified as Uncertain significance.
Frequency
Consequence
NM_006574.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
CSPG5 | ENST00000264723.9 | c.1372C>A | p.Arg458Ser | missense_variant | Exon 3 of 5 | 1 | NM_006574.4 | ENSP00000264723.4 | ||
CSPG5 | ENST00000383738.6 | c.1372C>A | p.Arg458Ser | missense_variant | Exon 3 of 5 | 1 | ENSP00000373244.2 | |||
CSPG5 | ENST00000456150.5 | c.958C>A | p.Arg320Ser | missense_variant | Exon 2 of 4 | 1 | ENSP00000392096.1 | |||
CSPG5 | ENST00000610462.1 | c.1372C>A | p.Arg458Ser | missense_variant | Exon 3 of 4 | 5 | ENSP00000478923.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461646Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727124
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at