3-63615296-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001130003.2(SYNPR):āc.673T>Gā(p.Ser225Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000991 in 1,613,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001130003.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYNPR | NM_001130003.2 | c.673T>G | p.Ser225Ala | missense_variant | 6/6 | ENST00000478300.6 | NP_001123475.1 | |
SYNPR | NM_144642.5 | c.613T>G | p.Ser205Ala | missense_variant | 5/5 | NP_653243.1 | ||
SYNPR | XM_017005731.1 | c.721T>G | p.Ser241Ala | missense_variant | 6/6 | XP_016861220.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SYNPR | ENST00000478300.6 | c.673T>G | p.Ser225Ala | missense_variant | 6/6 | 1 | NM_001130003.2 | ENSP00000418994 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 248914Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135036
GnomAD4 exome AF: 0.0000992 AC: 145AN: 1461588Hom.: 0 Cov.: 31 AF XY: 0.000105 AC XY: 76AN XY: 727062
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.673T>G (p.S225A) alteration is located in exon 6 (coding exon 6) of the SYNPR gene. This alteration results from a T to G substitution at nucleotide position 673, causing the serine (S) at amino acid position 225 to be replaced by an alanine (A). 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