ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.451+7A>G

gnomAD frequency: 0.00210  dbSNP: rs201525996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275976 SCV000351329 benign Autoimmune lymphoproliferative syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000275976 SCV000760465 benign Autoimmune lymphoproliferative syndrome type 1 2024-01-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000275976 SCV000898685 uncertain significance Autoimmune lymphoproliferative syndrome type 1 2017-12-20 criteria provided, single submitter clinical testing FASLG NM_000639.2 exon 3 c.451+7A>G: This variant has not been reported in the literature but is present in 0.8% (206/24030) of African alleles including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201525996). This variant is present in ClinVar (Variation ID:293738). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281011 SCV001468415 uncertain significance Autoimmune lymphoproliferative syndrome type 1; Lung cancer 2021-03-30 criteria provided, single submitter clinical testing FASLG NM_000639.2 exon 3 c.451+7A>G: This variant has been previously identified by our laboratory in 1 individual with vanishing bile duct syndrome and peripheral eosinophillia. This variant has not been reported in the literature but is present in 0.8% (207/24964) of African alleles including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201525996). This variant is present in ClinVar (Variation ID:293738). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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