rs188061449
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001099403.2(PRDM8):āc.1314C>Gā(p.Ala438=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000066 in 151,428 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. A438A) has been classified as Likely benign.
Frequency
Consequence
NM_001099403.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRDM8 | NM_001099403.2 | c.1314C>G | p.Ala438= | synonymous_variant | 4/4 | ENST00000415738.3 | |
PRDM8 | NM_020226.4 | c.1314C>G | p.Ala438= | synonymous_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRDM8 | ENST00000415738.3 | c.1314C>G | p.Ala438= | synonymous_variant | 4/4 | 1 | NM_001099403.2 | P1 | |
PRDM8 | ENST00000339711.8 | c.1314C>G | p.Ala438= | synonymous_variant | 10/10 | 1 | P1 | ||
PRDM8 | ENST00000504452.5 | c.1314C>G | p.Ala438= | synonymous_variant | 8/8 | 5 | P1 | ||
PRDM8 | ENST00000515013.5 | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000661 AC: 1AN: 151320Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1098376Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 520650
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151428Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 73994
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at