chr17-43028615-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005440.5(RND2):c.619C>T(p.Arg207Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000918 in 1,612,638 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. R207Q) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RND2 | NM_005440.5 | c.619C>T | p.Arg207Trp | missense_variant | 5/5 | ENST00000587250.4 | |
RND2 | XM_011525316.2 | c.619C>T | p.Arg207Trp | missense_variant | 5/6 | ||
RND2 | XM_011525317.3 | c.535C>T | p.Arg179Trp | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RND2 | ENST00000587250.4 | c.619C>T | p.Arg207Trp | missense_variant | 5/5 | 1 | NM_005440.5 | P1 | |
RND2 | ENST00000710494.1 | n.547C>T | non_coding_transcript_exon_variant | 4/4 |
Frequencies
GnomAD3 genomes ? AF: 0.000197 AC: 30AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000154 AC: 38AN: 246794Hom.: 0 AF XY: 0.000127 AC XY: 17AN XY: 133638
GnomAD4 exome AF: 0.0000808 AC: 118AN: 1460326Hom.: 0 Cov.: 32 AF XY: 0.0000785 AC XY: 57AN XY: 726368
GnomAD4 genome ? AF: 0.000197 AC: 30AN: 152312Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2021 | The c.619C>T (p.R207W) alteration is located in exon 5 (coding exon 5) of the RND2 gene. This alteration results from a C to T substitution at nucleotide position 619, causing the arginine (R) at amino acid position 207 to be replaced by a tryptophan (W). 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