rs775367325
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001164507.2(NEB):āc.998A>Gā(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 (ā ). 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