NM_199328.3:c.624T>G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_199328.3(CLDN8):c.624T>G(p.Ser208Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00234 in 1,614,150 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S208I) has been classified as Uncertain significance.
Frequency
Consequence
NM_199328.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLDN8 | NM_199328.3 | c.624T>G | p.Ser208Arg | missense_variant | Exon 1 of 1 | ENST00000399899.2 | NP_955360.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00191 AC: 290AN: 152162Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00210 AC: 528AN: 251442Hom.: 1 AF XY: 0.00213 AC XY: 290AN XY: 135886
GnomAD4 exome AF: 0.00238 AC: 3482AN: 1461870Hom.: 5 Cov.: 31 AF XY: 0.00232 AC XY: 1690AN XY: 727240
GnomAD4 genome AF: 0.00190 AC: 290AN: 152280Hom.: 1 Cov.: 32 AF XY: 0.00168 AC XY: 125AN XY: 74450
ClinVar
Submissions by phenotype
not provided Benign:1
CLDN8: BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at