2-240692384-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_198998.3(AQP12A):c.434C>T(p.Thr145Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000193 in 144,818 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198998.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000193 AC: 28AN: 144742Hom.: 0 Cov.: 28
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000110 AC: 15AN: 1368238Hom.: 0 Cov.: 37 AF XY: 0.0000104 AC XY: 7AN XY: 674818
GnomAD4 genome AF: 0.000193 AC: 28AN: 144818Hom.: 0 Cov.: 28 AF XY: 0.000255 AC XY: 18AN XY: 70488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.434C>T (p.T145I) alteration is located in exon 2 (coding exon 2) of the AQP12A gene. This alteration results from a C to T substitution at nucleotide position 434, causing the threonine (T) at amino acid position 145 to be replaced by an isoleucine (I). 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