11-65864501-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_025128.5(MUS81):c.1064G>A(p.Arg355Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,613,810 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R355R) has been classified as Benign.
Frequency
Consequence
NM_025128.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUS81 | NM_025128.5 | c.1064G>A | p.Arg355Gln | missense_variant | 11/16 | ENST00000308110.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUS81 | ENST00000308110.9 | c.1064G>A | p.Arg355Gln | missense_variant | 11/16 | 1 | NM_025128.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251378Hom.: 1 AF XY: 0.0000515 AC XY: 7AN XY: 135858
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461614Hom.: 1 Cov.: 30 AF XY: 0.0000344 AC XY: 25AN XY: 727116
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 25, 2021 | The c.1064G>A (p.R355Q) alteration is located in exon 11 (coding exon 11) of the MUS81 gene. This alteration results from a G to A substitution at nucleotide position 1064, causing the arginine (R) at amino acid position 355 to be replaced by a glutamine (Q). 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