22-32399623-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_014306.5(RTCB):āc.634A>Gā(p.Lys212Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,460,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014306.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RTCB | NM_014306.5 | c.634A>G | p.Lys212Glu | missense_variant | 6/12 | ENST00000216038.6 | NP_055121.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RTCB | ENST00000216038.6 | c.634A>G | p.Lys212Glu | missense_variant | 6/12 | 1 | NM_014306.5 | ENSP00000216038.5 | ||
RTCB | ENST00000476619.5 | n.515A>G | non_coding_transcript_exon_variant | 4/5 | 4 | |||||
RTCB | ENST00000485373.5 | n.491A>G | non_coding_transcript_exon_variant | 4/5 | 4 | |||||
RTCB | ENST00000498434.1 | n.363A>G | non_coding_transcript_exon_variant | 1/2 | 4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460838Hom.: 0 Cov.: 29 AF XY: 0.00000275 AC XY: 2AN XY: 726738
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 20, 2023 | The c.634A>G (p.K212E) alteration is located in exon 6 (coding exon 6) of the RTCB gene. This alteration results from a A to G substitution at nucleotide position 634, causing the lysine (K) at amino acid position 212 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.