1-32684324-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030786.3(SYNC):āc.1292A>Gā(p.Gln431Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,614,222 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.1292A>G | p.Gln431Arg | missense_variant | Exon 3 of 5 | 2 | NM_030786.3 | ENSP00000386439.3 | ||
RBBP4 | ENST00000373493.10 | c.*4619T>C | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_005610.3 | ENSP00000362592.4 | |||
SYNC | ENST00000373484.4 | c.1292A>G | p.Gln431Arg | missense_variant | Exon 3 of 4 | 2 | ENSP00000362583.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251158Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135728
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727242
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1292A>G (p.Q431R) alteration is located in exon 3 (coding exon 3) of the SYNC gene. This alteration results from a A to G substitution at nucleotide position 1292, causing the glutamine (Q) at amino acid position 431 to be replaced by an arginine (R). 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