NM_080675.4:c.674A>G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP4
The NM_080675.4(SUN5):c.674A>G(p.Tyr225Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,390 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SUN5 | NM_080675.4 | c.674A>G | p.Tyr225Cys | missense_variant | Exon 10 of 13 | ENST00000356173.8 | NP_542406.2 | |
SUN5 | XM_011528573.2 | c.743A>G | p.Tyr248Cys | missense_variant | Exon 11 of 14 | XP_011526875.1 | ||
SUN5 | XM_011528574.2 | c.599A>G | p.Tyr200Cys | missense_variant | Exon 9 of 12 | XP_011526876.1 | ||
SUN5 | XM_011528575.2 | c.404A>G | p.Tyr135Cys | missense_variant | Exon 8 of 11 | XP_011526877.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151978Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250280Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135312
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461412Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726892
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151978Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.674A>G (p.Y225C) alteration is located in exon 10 (coding exon 10) of the SUN5 gene. This alteration results from a A to G substitution at nucleotide position 674, causing the tyrosine (Y) at amino acid position 225 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