ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4153-10del (rs112116713)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586487 SCV000697784 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.4153-10delT variant affects a non-conserved nucleotide, located in a polymorphic intronic position not widely known to affect splicing. Mutation taster predicts benign outcome for this variant along with 5/5 in silico tools predicting the variant not to have an impact on splicing. This variant is found in 6550/81728 control chromosomes at a frequency of 0.0801439, which is about 128230 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. The variant removes one T from a poly T (11 T bases in a row) area which is highly polymorphic in the general population further supporting a neutral impact. Considering all evidence, the variant was classified as Benign.

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