12-100218581-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_022496.5(ACTR6):c.917C>T(p.Pro306Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022496.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACTR6 | NM_022496.5 | c.917C>T | p.Pro306Leu | missense_variant | Exon 9 of 11 | ENST00000188312.7 | NP_071941.1 | |
ACTR6 | NR_048568.2 | n.1095C>T | non_coding_transcript_exon_variant | Exon 9 of 11 | ||||
ACTR6 | NR_048569.2 | n.967C>T | non_coding_transcript_exon_variant | Exon 9 of 11 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.917C>T (p.P306L) alteration is located in exon 9 (coding exon 9) of the ACTR6 gene. This alteration results from a C to T substitution at nucleotide position 917, causing the proline (P) at amino acid position 306 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.