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rs140758033

  • Conflicting interpretations of pathogenicity

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Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

This variant is associated with the following publications: (PMID: 23182313, 30232368, 30065071, 27942883, 21368765, 21812034, 22213678)

Reference Allele

G


Alternative Allele

C

Chromosome

22


Location

38112165


Variant Type

SNP

Genes

ClinVar

Name

NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)


Allele

C


Clinical Significance

Conflicting interpretations of pathogenicity

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