ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.85-2A>T (rs759590778)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826141 SCV000967668 pathogenic Fanconi anemia 2017-11-15 criteria provided, single submitter clinical testing The c.85-2A>T (NM_004629.1) variant in FANCG has been previously reported in 1 c ompound heterozygous individual with Fanconi anemia (Esmail Nia 2016). It has be en identified in 2/104882 of European chromosomes by the Genome Aggregation Data base (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs759590778). Although thi s variant has been seen in the general population, its frequency is low enough t o be consistent with a recessive carrier frequency. This variant occurs in the i nvariant region (+/- 1,2) of the splice consensus sequence and is predicted to c ause altered splicing leading to an abnormal or absent protein. Biallelic loss o f function of the FANCG gene is associated with Fanconi anemia. In summary, the c.85-2A>T variant meets criteria to be classified as pathogenic for Fanconi anem ia in an autosomal recessive manner based on its predicted impact to the protein and its occurrence in an individual with this disease. ACMG/AMP Criteria applie d: PVS1, PM2, PM3.

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