rs146395322
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001146079.2(CLDN14):c.102G>T(p.Ala34=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000373 in 1,609,096 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A34A) has been classified as Likely benign.
Frequency
Consequence
NM_001146079.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLDN14 | NM_001146079.2 | c.102G>T | p.Ala34= | synonymous_variant | 2/2 | ENST00000399135.6 | |
CLDN14-AS1 | NR_183529.1 | n.468+15587C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLDN14 | ENST00000399135.6 | c.102G>T | p.Ala34= | synonymous_variant | 2/2 | 1 | NM_001146079.2 | P1 | |
CLDN14-AS1 | ENST00000428667.1 | n.277+15587C>A | intron_variant, non_coding_transcript_variant | 5 | |||||
LNCTSI | ENST00000429588.1 | n.54-18637C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1456796Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 724330
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152300Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at