15-73443258-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001042367.2(REC114):c.73C>G(p.Arg25Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000191 in 1,572,974 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R25W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001042367.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
REC114 | NM_001042367.2 | c.73C>G | p.Arg25Gly | missense_variant | 1/6 | ENST00000331090.11 | |
REC114 | NM_001348772.2 | c.73C>G | p.Arg25Gly | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
REC114 | ENST00000331090.11 | c.73C>G | p.Arg25Gly | missense_variant | 1/6 | 1 | NM_001042367.2 | P1 | |
REC114 | ENST00000560581.1 | c.73C>G | p.Arg25Gly | missense_variant | 1/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000552 AC: 1AN: 181160Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 97530
GnomAD4 exome AF: 0.0000197 AC: 28AN: 1420792Hom.: 0 Cov.: 31 AF XY: 0.0000185 AC XY: 13AN XY: 703044
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2022 | The c.73C>G (p.R25G) alteration is located in exon 1 (coding exon 1) of the REC114 gene. This alteration results from a C to G substitution at nucleotide position 73, causing the arginine (R) at amino acid position 25 to be replaced by a glycine (G). 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