16-82858432-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001257.5(CDH13):c.116A>G(p.Asn39Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0142 in 1,613,538 control chromosomes in the GnomAD database, including 532 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.019 ( 53 hom., cov: 33)
Exomes 𝑓: 0.014 ( 479 hom. )
Consequence
CDH13
NM_001257.5 missense
NM_001257.5 missense
Scores
15
Clinical Significance
Conservation
PhyloP100: 2.55
Genes affected
CDH13 (HGNC:1753): (cadherin 13) This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0023998022).
BP6
?
Variant 16-82858432-A-G is Benign according to our data. Variant chr16-82858432-A-G is described in ClinVar as [Benign]. Clinvar id is 257648.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.074 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH13 | NM_001257.5 | c.116A>G | p.Asn39Ser | missense_variant | 2/14 | ENST00000567109.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH13 | ENST00000567109.6 | c.116A>G | p.Asn39Ser | missense_variant | 2/14 | 1 | NM_001257.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0190 AC: 2895AN: 152222Hom.: 52 Cov.: 33
GnomAD3 genomes
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GnomAD3 exomes AF: 0.0214 AC: 5328AN: 249040Hom.: 181 AF XY: 0.0240 AC XY: 3247AN XY: 135094
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GnomAD4 exome AF: 0.0137 AC: 19985AN: 1461196Hom.: 479 Cov.: 30 AF XY: 0.0156 AC XY: 11364AN XY: 726908
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GnomAD4 genome ? AF: 0.0190 AC: 2900AN: 152342Hom.: 53 Cov.: 33 AF XY: 0.0205 AC XY: 1526AN XY: 74494
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ESP6500AA
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118
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61
ExAC
?
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2710
Asia WGS
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222
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 10, 2021 | This variant is associated with the following publications: (PMID: 27238071, 25450229) - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
DEOGEN2
Benign
T;.;.;.;.;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T;T;T;T;T;T
MetaRNN
Benign
T;T;T;T;T;T
MetaSVM
Benign
T
MutationAssessor
Benign
N;.;N;N;N;.
MutationTaster
Benign
N;N;N;N;N;N;N
PrimateAI
Benign
T
Sift4G
Benign
T;T;T;T;T;T
Polyphen
B;.;.;.;.;.
Vest4
MPC
0.059
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at