22-37813556-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_014291.4(GCAT):c.523C>T(p.Arg175Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000335 in 1,613,428 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R175L) has been classified as Uncertain significance.
Frequency
Consequence
NM_014291.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GCAT | NM_014291.4 | c.523C>T | p.Arg175Cys | missense_variant | 4/9 | ENST00000248924.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GCAT | ENST00000248924.11 | c.523C>T | p.Arg175Cys | missense_variant | 4/9 | 1 | NM_014291.4 | P1 | |
GCAT | ENST00000323205.10 | c.601C>T | p.Arg201Cys | missense_variant | 4/10 | 2 | |||
GCAT | ENST00000451984.1 | c.664C>T | p.Arg222Cys | missense_variant | 4/4 | 3 | |||
GCAT | ENST00000426858.1 | c.*116C>T | 3_prime_UTR_variant, NMD_transcript_variant | 3/4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249650Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135288
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461234Hom.: 0 Cov.: 32 AF XY: 0.0000454 AC XY: 33AN XY: 726904
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at