rs200423380
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001015877.2(PHF6):c.414C>A(p.Ser138=) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S138S) has been classified as Likely benign.
Frequency
Consequence
NM_001015877.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PHF6 | NM_001015877.2 | c.414C>A | p.Ser138= | synonymous_variant | 5/11 | ENST00000370803.8 | |
PHF6 | NM_032458.3 | c.414C>A | p.Ser138= | synonymous_variant | 5/10 | ||
PHF6 | NM_032335.3 | c.414C>A | p.Ser138= | synonymous_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PHF6 | ENST00000370803.8 | c.414C>A | p.Ser138= | synonymous_variant | 5/11 | 1 | NM_001015877.2 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD4 exome Cov.: 29
GnomAD4 genome ? Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at