17-43028616-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005440.5(RND2):c.620G>A(p.Arg207Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000685 in 1,460,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R207W) has been classified as Uncertain significance.
Frequency
Consequence
NM_005440.5 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 | UniProt |
---|---|---|---|---|---|---|---|
RND2 | NM_005440.5 | c.620G>A | p.Arg207Gln | missense_variant | 5/5 | ENST00000587250.4 | |
RND2 | XM_011525316.2 | c.620G>A | p.Arg207Gln | missense_variant | 5/6 | ||
RND2 | XM_011525317.3 | c.536G>A | p.Arg179Gln | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RND2 | ENST00000587250.4 | c.620G>A | p.Arg207Gln | missense_variant | 5/5 | 1 | NM_005440.5 | P1 | |
RND2 | ENST00000710494.1 | n.548G>A | non_coding_transcript_exon_variant | 4/4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246312Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133338
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1460156Hom.: 0 Cov.: 32 AF XY: 0.00000964 AC XY: 7AN XY: 726248
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2022 | The c.620G>A (p.R207Q) alteration is located in exon 5 (coding exon 5) of the RND2 gene. This alteration results from a G to A substitution at nucleotide position 620, causing the arginine (R) at amino acid position 207 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