chr5-178138207-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022762.5(RMND5B):āc.88G>Cā(p.Glu30Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,694 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 (ā ).
Frequency
Consequence
NM_022762.5 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RMND5B | NM_022762.5 | c.88G>C | p.Glu30Gln | missense_variant | 3/11 | ENST00000313386.9 | NP_073599.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RMND5B | ENST00000313386.9 | c.88G>C | p.Glu30Gln | missense_variant | 3/11 | 1 | NM_022762.5 | ENSP00000320623 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250124Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135360
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461694Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727158
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2023 | The c.88G>C (p.E30Q) alteration is located in exon 3 (coding exon 1) of the RMND5B gene. This alteration results from a G to C substitution at nucleotide position 88, causing the glutamic acid (E) at amino acid position 30 to be replaced by a glutamine (Q). 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