7-152648459-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005431.2(XRCC2):c.*183C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000299 in 334,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005431.2 3_prime_UTR
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XRCC2 | NM_005431.2 | c.*183C>A | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000359321.2 | NP_005422.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XRCC2 | ENST00000359321 | c.*183C>A | 3_prime_UTR_variant | Exon 3 of 3 | 1 | NM_005431.2 | ENSP00000352271.1 | |||
XRCC2 | ENST00000495707.1 | n.1048C>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 1 | |||||
XRCC2 | ENST00000698506 | c.*183C>A | 3_prime_UTR_variant | Exon 2 of 2 | ENSP00000513758.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000299 AC: 1AN: 334768Hom.: 0 Cov.: 6 AF XY: 0.00000588 AC XY: 1AN XY: 170118
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.