3-156543249-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007107.5(SSR3):c.512G>A(p.Ser171Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,461,568 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007107.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSR3 | NM_007107.5 | c.512G>A | p.Ser171Asn | missense_variant | Exon 5 of 5 | ENST00000265044.7 | NP_009038.1 | |
SSR3 | NM_001308197.2 | c.551G>A | p.Ser184Asn | missense_variant | Exon 5 of 5 | NP_001295126.1 | ||
SSR3 | NM_001308204.2 | c.356G>A | p.Ser119Asn | missense_variant | Exon 5 of 5 | NP_001295133.1 | ||
SSR3 | NM_001308205.2 | c.356G>A | p.Ser119Asn | missense_variant | Exon 5 of 5 | NP_001295134.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251316Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135838
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461568Hom.: 0 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727142
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 184 of the SSR3 protein (p.Ser184Asn). This variant is present in population databases (rs754178019, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SSR3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at