8-94380348-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012415.3(RAD54B):c.2044C>T(p.Arg682Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000026 in 1,613,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012415.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAD54B | NM_012415.3 | c.2044C>T | p.Arg682Cys | missense_variant | 12/15 | ENST00000336148.10 | NP_036547.1 | |
RAD54B | NM_001205263.2 | c.1492C>T | p.Arg498Cys | missense_variant | 10/13 | NP_001192192.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAD54B | ENST00000336148.10 | c.2044C>T | p.Arg682Cys | missense_variant | 12/15 | 1 | NM_012415.3 | ENSP00000336606.5 | ||
FSBP | ENST00000517506.2 | n.*1724C>T | non_coding_transcript_exon_variant | 10/12 | 5 | ENSP00000462684.1 | ||||
RAD54B | ENST00000518358.1 | n.505C>T | non_coding_transcript_exon_variant | 2/2 | 3 | |||||
FSBP | ENST00000517506.2 | n.*1724C>T | 3_prime_UTR_variant | 10/12 | 5 | ENSP00000462684.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251222Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135774
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461430Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727032
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 12, 2023 | The c.2044C>T (p.R682C) alteration is located in exon 12 (coding exon 11) of the RAD54B gene. This alteration results from a C to T substitution at nucleotide position 2044, causing the arginine (R) at amino acid position 682 to be replaced by a cysteine (C). 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