20-33412352-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003098.3(SNTA1):c.984C>A(p.Pro328Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,459,346 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P328P) has been classified as Benign.
Frequency
Consequence
NM_003098.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNTA1 | NM_003098.3 | c.984C>A | p.Pro328Pro | synonymous_variant | 5/8 | ENST00000217381.3 | NP_003089.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNTA1 | ENST00000217381.3 | c.984C>A | p.Pro328Pro | synonymous_variant | 5/8 | 1 | NM_003098.3 | ENSP00000217381.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000412 AC: 1AN: 242722Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131918
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459346Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725728
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at