15-73556362-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001042367.2(REC114):c.607G>A(p.Gly203Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000669 in 1,613,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042367.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
REC114 | NM_001042367.2 | c.607G>A | p.Gly203Arg | missense_variant | 5/6 | ENST00000331090.11 | |
REC114 | NM_001348772.2 | c.523G>A | p.Gly175Arg | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
REC114 | ENST00000331090.11 | c.607G>A | p.Gly203Arg | missense_variant | 5/6 | 1 | NM_001042367.2 | P1 | |
REC114 | ENST00000560581.1 | c.523G>A | p.Gly175Arg | missense_variant | 4/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000289 AC: 44AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000684 AC: 17AN: 248384Hom.: 0 AF XY: 0.0000668 AC XY: 9AN XY: 134716
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461450Hom.: 0 Cov.: 30 AF XY: 0.0000426 AC XY: 31AN XY: 726996
GnomAD4 genome ? AF: 0.000289 AC: 44AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 25, 2022 | The c.607G>A (p.G203R) alteration is located in exon 5 (coding exon 5) of the REC114 gene. This alteration results from a G to A substitution at nucleotide position 607, causing the glycine (G) at amino acid position 203 to be replaced by an arginine (R). 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