11-126304117-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014026.6(DCPS):c.37C>A(p.Arg13Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000212 in 1,461,020 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014026.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DCPS | NM_014026.6 | c.37C>A | p.Arg13Ser | 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.37C>A | p.Arg13Ser | missense_variant | Exon 1 of 6 | 1 | NM_014026.6 | ENSP00000263579.4 | ||
TIRAP-AS1 | ENST00000693424.1 | n.183G>T | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||||
TIRAP-AS1 | ENST00000524964.2 | n.116+91G>T | intron_variant | Intron 1 of 1 | 2 | |||||
TIRAP-AS1 | ENST00000691542.1 | n.114+91G>T | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000442 AC: 11AN: 248716Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134754
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461020Hom.: 0 Cov.: 30 AF XY: 0.0000261 AC XY: 19AN XY: 726756
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.37C>A (p.R13S) alteration is located in exon 1 (coding exon 1) of the DCPS gene. This alteration results from a C to A substitution at nucleotide position 37, causing the arginine (R) at amino acid position 13 to be replaced by a serine (S). 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