chr11-126345351-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014026.6(DCPS):c.752C>T(p.Ala251Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,613,656 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.752C>T | p.Ala251Val | missense_variant | Exon 6 of 6 | ENST00000263579.5 | NP_054745.1 | |
DCPS | NM_001350236.2 | c.773C>T | p.Ala258Val | missense_variant | Exon 6 of 6 | NP_001337165.1 | ||
GSEC | NR_033839.1 | n.147-3029G>A | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249498Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134884
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461444Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727016
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.752C>T (p.A251V) alteration is located in exon 6 (coding exon 6) of the DCPS gene. This alteration results from a C to T substitution at nucleotide position 752, causing the alanine (A) at amino acid position 251 to be replaced by a valine (V). 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