8-142741199-C-T
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PS1PM1PP3_ModeratePP5_Moderate
The NM_020427.3(SLURP1):c.256G>A(p.Gly86Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,609,868 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 Pathogenic (★). Another nucleotide change resulting in same amino acid change has been previously reported as Pathogenicin ClinVar.
Frequency
Consequence
NM_020427.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLURP1 | NM_020427.3 | c.256G>A | p.Gly86Arg | missense_variant | 3/3 | ENST00000246515.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLURP1 | ENST00000246515.2 | c.256G>A | p.Gly86Arg | missense_variant | 3/3 | 1 | NM_020427.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152042Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000448 AC: 11AN: 245774Hom.: 0 AF XY: 0.0000598 AC XY: 8AN XY: 133682
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1457826Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 725308
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152042Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74262
ClinVar
Submissions by phenotype
Acroerythrokeratoderma Pathogenic:2
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 2003 | - - |
Pathogenic, no assertion criteria provided | clinical testing | Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University | - | - - |
not provided Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2022 | SLURP1: PP1:Strong, PM2, PM3, PP4, PS3:Supporting, PS4:Supporting - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at