11-126304214-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014026.6(DCPS):āc.134C>Gā(p.Ser45Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,614,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014026.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCPS | NM_014026.6 | c.134C>G | p.Ser45Cys | missense_variant | Exon 1 of 6 | ENST00000263579.5 | NP_054745.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DCPS | ENST00000263579.5 | c.134C>G | p.Ser45Cys | missense_variant | Exon 1 of 6 | 1 | NM_014026.6 | ENSP00000263579.4 | ||
TIRAP-AS1 | ENST00000524964.2 | n.110G>C | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | |||||
TIRAP-AS1 | ENST00000691542.1 | n.108G>C | non_coding_transcript_exon_variant | Exon 1 of 2 | ||||||
TIRAP-AS1 | ENST00000693424.1 | n.86G>C | non_coding_transcript_exon_variant | Exon 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251318Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135836
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727240
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152352Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74502
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at