15-76931981-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002902.3(RCN2):āc.140T>Cā(p.Val47Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000018 in 1,111,878 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002902.3 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 |
---|---|---|---|---|---|---|---|
RCN2 | NM_002902.3 | c.140T>C | p.Val47Ala | missense_variant | 1/7 | ENST00000394885.8 | |
RCN2 | NM_001271837.2 | c.140T>C | p.Val47Ala | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RCN2 | ENST00000394885.8 | c.140T>C | p.Val47Ala | missense_variant | 1/7 | 1 | NM_002902.3 | P1 | |
RCN2 | ENST00000320963.9 | c.140T>C | p.Val47Ala | missense_variant | 1/8 | 5 | |||
RCN2 | ENST00000394883.3 | c.140T>C | p.Val47Ala | missense_variant | 1/5 | 5 | |||
RCN2 | ENST00000557805.1 | c.113T>C | p.Val38Ala | missense_variant, NMD_transcript_variant | 1/6 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000180 AC: 2AN: 1111878Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 533902
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.