chr16-64947611-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001797.4(CDH11):c.2383G>T(p.Asp795Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000688 in 1,452,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. D795N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001797.4 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 |
---|---|---|---|---|---|---|---|---|
CDH11 | NM_001797.4 | c.2383G>T | p.Asp795Tyr | missense_variant | Exon 13 of 13 | ENST00000268603.9 | NP_001788.2 | |
CDH11 | NM_001330576.2 | c.2005G>T | p.Asp669Tyr | missense_variant | Exon 12 of 12 | NP_001317505.1 | ||
CDH11 | XM_047433486.1 | c.2005G>T | p.Asp669Tyr | missense_variant | Exon 12 of 12 | XP_047289442.1 | ||
CDH11 | NM_001308392.2 | c.*480G>T | 3_prime_UTR_variant | Exon 14 of 14 | NP_001295321.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDH11 | ENST00000268603.9 | c.2383G>T | p.Asp795Tyr | missense_variant | Exon 13 of 13 | 1 | NM_001797.4 | ENSP00000268603.4 | ||
CDH11 | ENST00000394156 | c.*480G>T | 3_prime_UTR_variant | Exon 14 of 14 | 1 | ENSP00000377711.3 | ||||
CDH11 | ENST00000566827.5 | c.2005G>T | p.Asp669Tyr | missense_variant | Exon 12 of 12 | 2 | ENSP00000457812.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1452648Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 720878
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at