19-49528637-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020650.3(RCN3):c.165C>A(p.Asp55Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000676 in 1,612,132 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 (★).
Frequency
Consequence
NM_020650.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RCN3 | ENST00000270645.8 | c.165C>A | p.Asp55Glu | missense_variant | Exon 2 of 7 | 1 | NM_020650.3 | ENSP00000270645.2 | ||
RCN3 | ENST00000598833.1 | c.12C>A | p.Asp4Glu | missense_variant | Exon 1 of 4 | 3 | ENSP00000470540.1 | |||
RCN3 | ENST00000597801.1 | c.165C>A | p.Asp55Glu | missense_variant | Exon 2 of 4 | 5 | ENSP00000469727.1 | |||
RCN3 | ENST00000593644.1 | n.94C>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000684 AC: 17AN: 248572Hom.: 0 AF XY: 0.0000595 AC XY: 8AN XY: 134466
GnomAD4 exome AF: 0.0000644 AC: 94AN: 1459922Hom.: 0 Cov.: 31 AF XY: 0.0000592 AC XY: 43AN XY: 726248
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.165C>A (p.D55E) alteration is located in exon 2 (coding exon 1) of the RCN3 gene. This alteration results from a C to A substitution at nucleotide position 165, causing the aspartic acid (D) at amino acid position 55 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