X-49191578-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003179.3(SYP):c.801C>T(p.Ser267=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000414 in 1,209,006 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003179.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SYP | NM_003179.3 | c.801C>T | p.Ser267= | synonymous_variant | 6/7 | ENST00000263233.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SYP | ENST00000263233.9 | c.801C>T | p.Ser267= | synonymous_variant | 6/7 | 1 | NM_003179.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000177 AC: 2AN: 112996Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35126
GnomAD3 exomes AF: 0.00000579 AC: 1AN: 172767Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 61953
GnomAD4 exome AF: 0.00000274 AC: 3AN: 1096010Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 362030
GnomAD4 genome ? AF: 0.0000177 AC: 2AN: 112996Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35126
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 24, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at