chr12-105164138-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015275.3(WASHC4):c.3185A>G(p.Asp1062Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,816 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D1062A) has been classified as Uncertain significance.
Frequency
Consequence
NM_015275.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WASHC4 | NM_015275.3 | c.3185A>G | p.Asp1062Gly | missense_variant | 31/33 | ENST00000332180.10 | |
WASHC4 | NM_001293640.2 | c.3188A>G | p.Asp1063Gly | missense_variant | 31/33 | ||
WASHC4 | XM_011538073.4 | c.3050A>G | p.Asp1017Gly | missense_variant | 30/32 | ||
WASHC4 | XM_011538074.3 | c.2621A>G | p.Asp874Gly | missense_variant | 25/27 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WASHC4 | ENST00000332180.10 | c.3185A>G | p.Asp1062Gly | missense_variant | 31/33 | 1 | NM_015275.3 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461816Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727212
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at