2-18560428-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020905.4(RDH14):c.145A>G(p.Thr49Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000245 in 1,505,182 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020905.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RDH14 | ENST00000381249.4 | c.145A>G | p.Thr49Ala | missense_variant | Exon 1 of 2 | 1 | NM_020905.4 | ENSP00000370648.3 | ||
NT5C1B-RDH14 | ENST00000532967.5 | c.1784+3417A>G | intron_variant | Intron 10 of 10 | 2 | ENSP00000433415.1 | ||||
NT5C1B-RDH14 | ENST00000444297.2 | c.1336-4620A>G | intron_variant | Intron 8 of 8 | 2 | ENSP00000412639.2 | ||||
RDH14 | ENST00000468071.1 | n.50+202A>G | intron_variant | Intron 1 of 1 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000217 AC: 33AN: 152056Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000171 AC: 17AN: 99596Hom.: 0 AF XY: 0.000160 AC XY: 9AN XY: 56114
GnomAD4 exome AF: 0.000248 AC: 336AN: 1353126Hom.: 0 Cov.: 31 AF XY: 0.000205 AC XY: 137AN XY: 667706
GnomAD4 genome AF: 0.000217 AC: 33AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.000283 AC XY: 21AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.145A>G (p.T49A) alteration is located in exon 1 (coding exon 1) of the RDH14 gene. This alteration results from a A to G substitution at nucleotide position 145, causing the threonine (T) at amino acid position 49 to be replaced by an alanine (A). 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