ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9363T>C (p.Pro3121=) (rs6709886)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220675 SCV000269443 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.9363T) is the minor allele. This a llele (T) has been identified in 36% (1162/3182) of European American chromosome s and 48% (670/1384) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs6709886) and thus meets c riteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000220675 SCV000307407 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000220675 SCV000519519 benign not specified 2016-01-05 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.
Integrated Genetics/Laboratory Corporation of America RCV000590769 SCV000697844 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.9363T>C (p.Pro3121Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 76809/120740 control chromosomes (24834 homozygotes) at a frequency of 0.6361521, which is approximately 180 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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