rs200733182
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_014846.4(WASHC5):c.3210G>T(p.Pro1070=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P1070P) has been classified as Likely benign.
Frequency
Consequence
NM_014846.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WASHC5 | NM_014846.4 | c.3210G>T | p.Pro1070= | synonymous_variant | 27/29 | ENST00000318410.12 | |
WASHC5 | NM_001330609.2 | c.2766G>T | p.Pro922= | synonymous_variant | 26/28 | ||
WASHC5 | XM_047422502.1 | c.3210G>T | p.Pro1070= | synonymous_variant | 28/30 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WASHC5 | ENST00000318410.12 | c.3210G>T | p.Pro1070= | synonymous_variant | 27/29 | 1 | NM_014846.4 | P1 | |
WASHC5 | ENST00000517845.5 | c.2766G>T | p.Pro922= | synonymous_variant | 25/27 | 2 | |||
WASHC5 | ENST00000519042.2 | n.349G>T | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
Ritscher-Schinzel syndrome;C1863704:Hereditary spastic paraplegia 8 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 17, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.