chr16-84154756-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_178452.6(DNAAF1):c.532C>T(p.Leu178Phe) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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. L178P) has been classified as Uncertain significance.
Frequency
Consequence
NM_178452.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF1 | NM_178452.6 | c.532C>T | p.Leu178Phe | missense_variant | 4/12 | ENST00000378553.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF1 | ENST00000378553.10 | c.532C>T | p.Leu178Phe | missense_variant | 4/12 | 1 | NM_178452.6 | P1 | |
DNAAF1 | ENST00000567918.5 | c.532C>T | p.Leu178Phe | missense_variant, NMD_transcript_variant | 4/7 | 1 | |||
DNAAF1 | ENST00000570298.5 | n.686C>T | non_coding_transcript_exon_variant | 4/11 | 2 | ||||
DNAAF1 | ENST00000563093.5 | c.532C>T | p.Leu178Phe | missense_variant, NMD_transcript_variant | 4/11 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at