ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.621G>A (p.Ala207=) (rs3852673)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039051 SCV000062729 benign not specified 2012-12-21 criteria provided, single submitter clinical testing Ala207Ala in exon 4 of TMEM127: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified identified in 11.5% o f chromosomes from a broad, though clinically and racially unspecified populatio n by the 1000 Genomes project (dbSNP rs3852673). Ala207Ala in exon 4 of TMEM127 (rs3852673; allele frequency = 11.5%)
Ambry Genetics RCV000162443 SCV000212793 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
PreventionGenetics,PreventionGenetics RCV000039051 SCV000313041 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280717 SCV000432538 benign Pheochromocytoma 2018-01-12 criteria provided, single submitter clinical testing 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588500 SCV000699443 benign not provided 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The TMEM127 c.621G>A (p.Ala207Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts polymorphism outcome for this variant. 5/5 Alamut algorithms predict no significant change to normal splicing. This variant was found in 19810/121224 control chromosomes (1938 homozygotes) at a frequency of 0.1634165, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic TMEM127 variant (0.0000001), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Benign. Taken together and based on the high allele frequency in the general population, this variant is classified as Benign.
Invitae RCV001513083 SCV001720617 benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2020-12-01 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.