11-126304143-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014026.6(DCPS):āc.63C>Gā(p.His21Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,710 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014026.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCPS | NM_014026.6 | c.63C>G | p.His21Gln | 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.63C>G | p.His21Gln | missense_variant | Exon 1 of 6 | 1 | NM_014026.6 | ENSP00000263579.4 | ||
TIRAP-AS1 | ENST00000693424.1 | n.157G>C | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||||
TIRAP-AS1 | ENST00000524964.2 | n.116+65G>C | intron_variant | Intron 1 of 1 | 2 | |||||
TIRAP-AS1 | ENST00000691542.1 | n.114+65G>C | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250802Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135688
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461710Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727152
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at