rs12150338
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001163809.2(WDR81):āc.3831C>Gā(p.Ala1277=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,612,296 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. A1277A) has been classified as Benign.
Frequency
Consequence
NM_001163809.2 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 |
---|---|---|---|---|---|---|---|
WDR81 | NM_001163809.2 | c.3831C>G | p.Ala1277= | synonymous_variant | 3/10 | ENST00000409644.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WDR81 | ENST00000409644.6 | c.3831C>G | p.Ala1277= | synonymous_variant | 3/10 | 1 | NM_001163809.2 | P1 | |
ENST00000576540.1 | n.296-4899G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247274Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134396
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460144Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 726396
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152152Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at