ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.621G>A (p.Ala207=) (rs3852673)

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Total submissions: 5
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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
PreventionGenetics,PreventionGenetics RCV000039051 SCV000313041 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280717 SCV000432538 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.

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