1-32695518-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030786.3(SYNC):c.580G>T(p.Asp194Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030786.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SYNC | ENST00000409190.8 | c.580G>T | p.Asp194Tyr | missense_variant | Exon 2 of 5 | 2 | NM_030786.3 | ENSP00000386439.3 | ||
SYNC | ENST00000373484.4 | c.580G>T | p.Asp194Tyr | missense_variant | Exon 2 of 4 | 2 | ENSP00000362583.3 | |||
SYNC | ENST00000417633.1 | c.*47G>T | downstream_gene_variant | 4 | ENSP00000401975.1 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD4 exome Cov.: 98
GnomAD4 genome Cov.: 28
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.580G>T (p.D194Y) alteration is located in exon 2 (coding exon 2) of the SYNC gene. This alteration results from a G to T substitution at nucleotide position 580, causing the aspartic acid (D) at amino acid position 194 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.