rs200716334
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_018026.4(PACS1):c.2358G>A(p.Ser786Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0002 in 1,614,028 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_018026.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PACS1 | NM_018026.4 | c.2358G>A | p.Ser786Ser | synonymous_variant | Exon 21 of 24 | ENST00000320580.9 | NP_060496.2 | |
PACS1 | XM_011545162.2 | c.2064G>A | p.Ser688Ser | synonymous_variant | Exon 21 of 24 | XP_011543464.2 | ||
PACS1 | XM_011545164.3 | c.2019G>A | p.Ser673Ser | synonymous_variant | Exon 21 of 24 | XP_011543466.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PACS1 | ENST00000320580.9 | c.2358G>A | p.Ser786Ser | synonymous_variant | Exon 21 of 24 | 1 | NM_018026.4 | ENSP00000316454.4 | ||
PACS1 | ENST00000529757.5 | c.966G>A | p.Ser322Ser | synonymous_variant | Exon 10 of 13 | 1 | ENSP00000432858.1 | |||
PACS1 | ENST00000525798.1 | n.396G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 | |||||
PACS1 | ENST00000676419.1 | n.395G>A | non_coding_transcript_exon_variant | Exon 6 of 6 |
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152166Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251298Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135838
GnomAD4 exome AF: 0.000199 AC: 291AN: 1461744Hom.: 0 Cov.: 31 AF XY: 0.000205 AC XY: 149AN XY: 727176
GnomAD4 genome AF: 0.000204 AC: 31AN: 152284Hom.: 1 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:2
- -
PACS1: BP4, BP7 -
not specified Benign:1
- -
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
PACS1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Schuurs-Hoeijmakers syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at