chr10-26697789-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_014317.5(PDSS1):c.78C>G(p.Pro26=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000244 in 1,309,786 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P26P) has been classified as Likely benign.
Frequency
Consequence
NM_014317.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDSS1 | NM_014317.5 | c.78C>G | p.Pro26= | synonymous_variant | 1/12 | ENST00000376215.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDSS1 | ENST00000376215.10 | c.78C>G | p.Pro26= | synonymous_variant | 1/12 | 1 | NM_014317.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 151972Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000533 AC: 1AN: 18772Hom.: 0 AF XY: 0.0000883 AC XY: 1AN XY: 11324
GnomAD4 exome AF: 0.0000233 AC: 27AN: 1157706Hom.: 0 Cov.: 30 AF XY: 0.0000321 AC XY: 18AN XY: 559974
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152080Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Feb 20, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at