rs121912695
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PP3_StrongPP5
The ENST00000260649.11(SLC3A1):āc.1955C>Gā(p.Thr652Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,730 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 (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T652A) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000260649.11 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC3A1 | NM_000341.4 | c.1955C>G | p.Thr652Arg | missense_variant | 10/10 | ENST00000260649.11 | NP_000332.2 | |
PREPL | NM_001171613.2 | c.*820G>C | 3_prime_UTR_variant | 14/14 | ENST00000409411.6 | NP_001165084.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC3A1 | ENST00000260649.11 | c.1955C>G | p.Thr652Arg | missense_variant | 10/10 | 1 | NM_000341.4 | ENSP00000260649 | P1 | |
PREPL | ENST00000409411.6 | c.*820G>C | 3_prime_UTR_variant | 14/14 | 1 | NM_001171613.2 | ENSP00000387095 | P4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461730Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727172
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Cystinuria Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Apr 01, 1994 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at