NM_001353655.3:c.863G>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001353655.3(CDCP2):c.863G>T(p.Arg288Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,726 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R288C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001353655.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDCP2 | ENST00000530059.3 | c.863G>T | p.Arg288Leu | missense_variant | Exon 4 of 6 | 5 | NM_001353655.3 | ENSP00000489959.1 | ||
ENSG00000256407 | ENST00000637610.1 | n.*1027G>T | non_coding_transcript_exon_variant | Exon 8 of 10 | 5 | ENSP00000490901.1 | ||||
ENSG00000256407 | ENST00000637610.1 | n.*1027G>T | 3_prime_UTR_variant | Exon 8 of 10 | 5 | ENSP00000490901.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461726Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727164
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at