2-18555567-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020905.4(RDH14):c.635A>G(p.Asn212Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts 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. N212I) has been classified 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RDH14 | NM_020905.4 | c.635A>G | p.Asn212Ser | missense_variant | Exon 2 of 2 | ENST00000381249.4 | NP_065956.1 | |
NT5C1B-RDH14 | NM_001199103.2 | c.1577A>G | p.Asn526Ser | missense_variant | Exon 9 of 9 | NP_001186032.1 | ||
NT5C1B-RDH14 | NM_001199104.2 | c.*217A>G | 3_prime_UTR_variant | Exon 11 of 11 | NP_001186033.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RDH14 | ENST00000381249.4 | c.635A>G | p.Asn212Ser | missense_variant | Exon 2 of 2 | 1 | NM_020905.4 | ENSP00000370648.3 | ||
NT5C1B-RDH14 | ENST00000532967 | c.*217A>G | 3_prime_UTR_variant | Exon 11 of 11 | 2 | ENSP00000433415.1 | ||||
NT5C1B-RDH14 | ENST00000444297.2 | c.1577A>G | p.Asn526Ser | missense_variant | Exon 9 of 9 | 2 | ENSP00000412639.2 | |||
RDH14 | ENST00000468071.1 | n.292A>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.