rs775367325
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001164507.2(NEB):c.998A>G(p.Tyr333Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000125 in 1,604,588 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 (★). Synonymous variant affecting the same amino acid position (i.e. Y333Y) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.998A>G | p.Tyr333Cys | missense_variant | 12/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.998A>G | p.Tyr333Cys | missense_variant | 12/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.998A>G | p.Tyr333Cys | missense_variant | 12/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.998A>G | p.Tyr333Cys | missense_variant | 12/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.998A>G | p.Tyr333Cys | missense_variant | 12/150 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1452342Hom.: 0 Cov.: 30 AF XY: 0.00000139 AC XY: 1AN XY: 721372
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74392
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at