chr8-125024635-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_014846.4(WASHC5):c.3462G>A(p.Glu1154Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000617 in 1,458,490 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.
Frequency
Consequence
NM_014846.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WASHC5 | NM_014846.4 | c.3462G>A | p.Glu1154Glu | synonymous_variant | Exon 29 of 29 | ENST00000318410.12 | NP_055661.3 | |
WASHC5 | NM_001330609.2 | c.3018G>A | p.Glu1006Glu | synonymous_variant | Exon 28 of 28 | NP_001317538.1 | ||
WASHC5 | XM_047422502.1 | c.3462G>A | p.Glu1154Glu | synonymous_variant | Exon 30 of 30 | XP_047278458.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WASHC5 | ENST00000318410.12 | c.3462G>A | p.Glu1154Glu | synonymous_variant | Exon 29 of 29 | 1 | NM_014846.4 | ENSP00000318016.7 | ||
WASHC5 | ENST00000517845.5 | c.3018G>A | p.Glu1006Glu | synonymous_variant | Exon 27 of 27 | 2 | ENSP00000429676.1 | |||
WASHC5 | ENST00000519042.2 | n.601G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251072Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135706
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1458490Hom.: 0 Cov.: 27 AF XY: 0.00000827 AC XY: 6AN XY: 725820
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at