2-216160129-G-C
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_021141.4(XRCC5):c.1732G>C(p.Val578Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000566 in 1,608,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021141.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
XRCC5 | NM_021141.4 | c.1732G>C | p.Val578Leu | missense_variant | 15/21 | ENST00000392132.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
XRCC5 | ENST00000392132.7 | c.1732G>C | p.Val578Leu | missense_variant | 15/21 | 1 | NM_021141.4 | P1 | |
XRCC5 | ENST00000460284.5 | n.2274G>C | non_coding_transcript_exon_variant | 12/18 | 1 | ||||
XRCC5 | ENST00000392133.7 | c.1732G>C | p.Val578Leu | missense_variant | 17/23 | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152000Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000649 AC: 16AN: 246596Hom.: 0 AF XY: 0.0000524 AC XY: 7AN XY: 133510
GnomAD4 exome AF: 0.0000501 AC: 73AN: 1456228Hom.: 0 Cov.: 30 AF XY: 0.0000455 AC XY: 33AN XY: 724534
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152000Hom.: 0 Cov.: 31 AF XY: 0.000135 AC XY: 10AN XY: 74238
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.1732G>C (p.V578L) alteration is located in exon 15 (coding exon 15) of the XRCC5 gene. This alteration results from a G to C substitution at nucleotide position 1732, causing the valine (V) at amino acid position 578 to be replaced by a leucine (L). 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