3-63615293-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001130003.2(SYNPR):c.670C>T(p.His224Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,428 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001130003.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYNPR | NM_001130003.2 | c.670C>T | p.His224Tyr | missense_variant | Exon 6 of 6 | ENST00000478300.6 | NP_001123475.1 | |
SYNPR | NM_144642.5 | c.610C>T | p.His204Tyr | missense_variant | Exon 5 of 5 | NP_653243.1 | ||
SYNPR | XM_017005731.1 | c.718C>T | p.His240Tyr | missense_variant | Exon 6 of 6 | XP_016861220.1 | ||
SYNPR | XM_017005732.3 | c.*4751C>T | downstream_gene_variant | XP_016861221.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461428Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726992
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.670C>T (p.H224Y) alteration is located in exon 6 (coding exon 6) of the SYNPR gene. This alteration results from a C to T substitution at nucleotide position 670, causing the histidine (H) at amino acid position 224 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.