chr7-101234302-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014343.3(CLDN15):c.358G>T(p.Ala120Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000392 in 1,608,708 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014343.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 246180Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133824
GnomAD4 exome AF: 0.0000412 AC: 60AN: 1456526Hom.: 0 Cov.: 31 AF XY: 0.0000428 AC XY: 31AN XY: 724908
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.358G>T (p.A120S) alteration is located in exon 3 (coding exon 2) of the CLDN15 gene. This alteration results from a G to T substitution at nucleotide position 358, causing the alanine (A) at amino acid position 120 to be replaced by a serine (S). 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