chr12-916703-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_134424.4(RAD52):c.661C>G(p.Gln221Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00183 in 1,614,186 control chromosomes in the GnomAD database, including 44 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_134424.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAD52 | NM_134424.4 | c.661C>G | p.Gln221Glu | missense_variant | 8/12 | ENST00000358495.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD52 | ENST00000358495.8 | c.661C>G | p.Gln221Glu | missense_variant | 8/12 | 1 | NM_134424.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00900 AC: 1369AN: 152190Hom.: 19 Cov.: 32
GnomAD3 exomes AF: 0.00240 AC: 598AN: 249254Hom.: 9 AF XY: 0.00174 AC XY: 236AN XY: 135272
GnomAD4 exome AF: 0.00107 AC: 1564AN: 1461878Hom.: 22 Cov.: 32 AF XY: 0.000945 AC XY: 687AN XY: 727238
GnomAD4 genome ? AF: 0.00909 AC: 1384AN: 152308Hom.: 22 Cov.: 32 AF XY: 0.00902 AC XY: 672AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Apr 04, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at