11-66216738-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_018026.4(PACS1):c.941C>G(p.Thr314Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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. T314I) has been classified as Likely benign.
Frequency
Consequence
NM_018026.4 missense
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 |
---|---|---|---|---|---|---|---|
PACS1 | NM_018026.4 | c.941C>G | p.Thr314Ser | missense_variant | 7/24 | ENST00000320580.9 | |
PACS1 | XM_011545162.2 | c.647C>G | p.Thr216Ser | missense_variant | 7/24 | ||
PACS1 | XM_011545164.3 | c.602C>G | p.Thr201Ser | missense_variant | 7/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PACS1 | ENST00000320580.9 | c.941C>G | p.Thr314Ser | missense_variant | 7/24 | 1 | NM_018026.4 | P2 | |
PACS1 | ENST00000527224.1 | n.1065C>G | non_coding_transcript_exon_variant | 7/7 | 2 | ||||
PACS1 | ENST00000531298.5 | c.203C>G | p.Thr68Ser | missense_variant, NMD_transcript_variant | 3/5 | 4 | |||
PACS1 | ENST00000524784.1 | c.113C>G | p.Thr38Ser | missense_variant, NMD_transcript_variant | 2/6 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at