rs147566753
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_001014.5(RPS10):c.408C>T(p.Ala136=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00229 in 1,614,098 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A136A) has been classified as Likely benign.
Frequency
Consequence
NM_001014.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPS10 | NM_001014.5 | c.408C>T | p.Ala136= | synonymous_variant | 5/6 | ENST00000648437.1 | |
RPS10-NUDT3 | NM_001202470.3 | c.408C>T | p.Ala136= | synonymous_variant | 5/9 | ||
RPS10 | NM_001203245.3 | c.408C>T | p.Ala136= | synonymous_variant | 5/6 | ||
RPS10 | NM_001204091.2 | c.408C>T | p.Ala136= | synonymous_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPS10 | ENST00000648437.1 | c.408C>T | p.Ala136= | synonymous_variant | 5/6 | NM_001014.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00182 AC: 277AN: 152100Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00218 AC: 549AN: 251448Hom.: 3 AF XY: 0.00255 AC XY: 346AN XY: 135900
GnomAD4 exome AF: 0.00234 AC: 3422AN: 1461880Hom.: 6 Cov.: 31 AF XY: 0.00252 AC XY: 1836AN XY: 727244
GnomAD4 genome ? AF: 0.00182 AC: 277AN: 152218Hom.: 2 Cov.: 32 AF XY: 0.00183 AC XY: 136AN XY: 74420
ClinVar
Submissions by phenotype
Diamond-Blackfan anemia 9 Benign:2
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 12, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Dec 21, 2021 | - - |
Diamond-Blackfan anemia Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 22, 2018 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 24, 2020 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 05, 2021 | - - |
RPS10-NUDT3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 04, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
RPS10-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 04, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at