X-52645457-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_173358.2(SSX7):āc.553G>Cā(p.Glu185Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E185K) has been classified as Benign.
Frequency
Consequence
NM_173358.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSX7 | NM_173358.2 | c.553G>C | p.Glu185Gln | missense_variant | Exon 7 of 8 | ENST00000298181.6 | NP_775494.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 21
GnomAD3 exomes AF: 0.0000117 AC: 2AN: 170963Hom.: 0 AF XY: 0.0000352 AC XY: 2AN XY: 56893
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000184 AC: 2AN: 1084315Hom.: 0 Cov.: 28 AF XY: 0.00000569 AC XY: 2AN XY: 351535
GnomAD4 genome Cov.: 21
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at