chr6-155276351-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001346.3(CLDN20):c.632C>A(p.Ser211Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001346.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLDN20 | NM_001001346.3 | c.632C>A | p.Ser211Tyr | missense_variant | 2/2 | ENST00000367165.3 | NP_001001346.1 | |
TFB1M | NM_016020.4 | c.666+8807G>T | intron_variant | ENST00000367166.5 | NP_057104.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLDN20 | ENST00000367165.3 | c.632C>A | p.Ser211Tyr | missense_variant | 2/2 | 1 | NM_001001346.3 | ENSP00000356133 | P1 | |
TFB1M | ENST00000367166.5 | c.666+8807G>T | intron_variant | 1 | NM_016020.4 | ENSP00000356134 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 13, 2023 | The c.632C>A (p.S211Y) alteration is located in exon 2 (coding exon 1) of the CLDN20 gene. This alteration results from a C to A substitution at nucleotide position 632, causing the serine (S) at amino acid position 211 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.