rs1555236962
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015275.3(WASHC4):c.1742A>C(p.Gln581Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. Q581E) 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.1742A>C | p.Gln581Pro | missense_variant | 18/33 | ENST00000332180.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WASHC4 | ENST00000332180.10 | c.1742A>C | p.Gln581Pro | missense_variant | 18/33 | 1 | NM_015275.3 | A1 | |
WASHC4 | ENST00000620430.5 | c.1745A>C | p.Gln582Pro | missense_variant | 18/33 | 1 | P5 | ||
WASHC4 | ENST00000311317.8 | n.1829A>C | non_coding_transcript_exon_variant | 18/25 | 2 | ||||
WASHC4 | ENST00000550053.5 | c.*1184A>C | 3_prime_UTR_variant, NMD_transcript_variant | 18/33 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at