chr16-84170178-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_178452.6(DNAAF1):c.1350G>T(p.Pro450=) 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. P450P) has been classified as Likely benign.
Frequency
Consequence
NM_178452.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF1 | NM_178452.6 | c.1350G>T | p.Pro450= | synonymous_variant | 8/12 | ENST00000378553.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF1 | ENST00000378553.10 | c.1350G>T | p.Pro450= | synonymous_variant | 8/12 | 1 | NM_178452.6 | P1 | |
DNAAF1 | ENST00000563818.5 | n.1027G>T | non_coding_transcript_exon_variant | 4/8 | 2 | ||||
DNAAF1 | ENST00000570298.5 | n.1504G>T | non_coding_transcript_exon_variant | 8/11 | 2 | ||||
DNAAF1 | ENST00000563093.5 | c.1226-64G>T | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 94
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at