rs1057518841
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_ModeratePP5_Moderate
The NM_000550.3(TYRP1):c.670C>T(p.His224Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,850 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 Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H224R) has been classified as Pathogenic.
Frequency
Consequence
NM_000550.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TYRP1 | NM_000550.3 | c.670C>T | p.His224Tyr | missense_variant | 3/8 | ENST00000388918.10 | NP_000541.1 | |
TYRP1 | XM_047423841.1 | c.670C>T | p.His224Tyr | missense_variant | 3/5 | XP_047279797.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TYRP1 | ENST00000388918.10 | c.670C>T | p.His224Tyr | missense_variant | 3/8 | 1 | NM_000550.3 | ENSP00000373570.4 | ||
TYRP1 | ENST00000381136.2 | c.5C>T | p.Ala2Val | missense_variant | 1/5 | 2 | ENSP00000370528.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461850Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727216
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Ocular albinism Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Centre for Mendelian Genomics, University Medical Centre Ljubljana | Oct 30, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at