17-7260420-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001307.6(CLDN7):c.590T>A(p.Val197Glu) 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. 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. V197A) has been classified as Likely benign.
Frequency
Consequence
NM_001307.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLDN7 | NM_001307.6 | c.590T>A | p.Val197Glu | missense_variant | Exon 4 of 4 | ENST00000360325.11 | NP_001298.3 | |
CLDN7 | NM_001185022.2 | c.590T>A | p.Val197Glu | missense_variant | Exon 5 of 5 | NP_001171951.1 | ||
CLDN7 | NM_001185023.2 | c.*67T>A | 3_prime_UTR_variant | Exon 3 of 3 | NP_001171952.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLDN7 | ENST00000360325.11 | c.590T>A | p.Val197Glu | missense_variant | Exon 4 of 4 | 1 | NM_001307.6 | ENSP00000353475.7 | ||
ENSG00000262302 | ENST00000577138.1 | n.223+1401T>A | intron_variant | Intron 1 of 3 | 3 | ENSP00000460571.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 53
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at