ClinVar Miner

Submissions for variant NM_000038.5(APC):c.2608C>T (p.Pro870Ser) (rs33974176)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034382 SCV000883403 benign not provided 2017-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000157720 SCV000212890 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034382 SCV000043116 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Center for Human Genetics, Inc RCV000659276 SCV000781074 likely benign Familial adenomatous polyposis 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034382 SCV000610978 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing
Color RCV000157720 SCV000681539 benign Hereditary cancer-predisposing syndrome 2015-03-19 criteria provided, single submitter clinical testing
Counsyl RCV000204735 SCV000488432 benign Familial adenomatous polyposis 1 2016-03-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035068 SCV000591113 benign not specified 2014-03-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035068 SCV000109816 benign not specified 2013-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000035068 SCV000167002 benign not specified 2013-12-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000035068 SCV000084154 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000400276 SCV000451999 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204735 SCV000261825 benign Familial adenomatous polyposis 1 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035068 SCV000058708 likely benign not specified 2011-03-29 criteria provided, single submitter clinical testing Pro870Ser in exon 15 of APC: The Pro870Ser variant has been reported in the literature in two individuals with multiple sporadic colorectal adenomas and was absent from 1938 age, sex, and race-matched control chromosomes (Azzopardi 2008). This variant has been reported in dbSNP with a frequency of about 2% (rs 33974176). Proline (Pro) at amino acid position 870 is not highly conserved in mammals or lower species, with mouse carrying an alanine and both chicken and frog carrying a serine (this variant). Collectively this data suggests a more likely benign role for this variant.
PreventionGenetics RCV000035068 SCV000805384 benign not specified 2016-11-09 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157720 SCV000787833 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing

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