11-106077721-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015423.3(AASDHPPT):c.11C>T(p.Pro4Leu) variant causes a missense 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. 14/20 in silico tools predict a benign 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. P4R) has been classified as Uncertain significance.
Frequency
Consequence
NM_015423.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AASDHPPT | ENST00000278618.9 | c.11C>T | p.Pro4Leu | missense_variant | Exon 1 of 6 | 1 | NM_015423.3 | ENSP00000278618.4 | ||
AASDHPPT | ENST00000524411.5 | c.-13+1433C>T | intron_variant | Intron 1 of 4 | 3 | ENSP00000435099.1 | ||||
AASDHPPT | ENST00000533423.5 | c.-12-1746C>T | intron_variant | Intron 1 of 3 | 3 | ENSP00000437175.1 | ||||
AASDHPPT | ENST00000525660.1 | n.11C>T | non_coding_transcript_exon_variant | Exon 1 of 5 | 2 | ENSP00000437144.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at