20-33002902-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_080675.4(SUN5):c.95G>A(p.Arg32Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000133 in 1,614,034 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_080675.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SUN5 | NM_080675.4 | c.95G>A | p.Arg32Gln | missense_variant | 2/13 | ENST00000356173.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SUN5 | ENST00000356173.8 | c.95G>A | p.Arg32Gln | missense_variant | 2/13 | 1 | NM_080675.4 | P2 | |
SUN5 | ENST00000375523.7 | c.95G>A | p.Arg32Gln | missense_variant | 2/12 | 5 | A2 | ||
SUN5 | ENST00000420875.5 | c.62G>A | p.Arg21Gln | missense_variant | 2/5 | 3 | |||
SUN5 | ENST00000375519.2 | c.95G>A | p.Arg32Gln | missense_variant | 2/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251422Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135882
GnomAD4 exome AF: 0.000140 AC: 204AN: 1461842Hom.: 0 Cov.: 33 AF XY: 0.000117 AC XY: 85AN XY: 727222
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2023 | The c.95G>A (p.R32Q) alteration is located in exon 2 (coding exon 2) of the SUN5 gene. This alteration results from a G to A substitution at nucleotide position 95, causing the arginine (R) at amino acid position 32 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