ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)

gnomAD frequency: 0.00001  dbSNP: rs183784665
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001772179 SCV004134052 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing FANCM: BP4
Revvity Omics, Revvity RCV001772179 SCV003833936 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
GeneDx RCV001772179 SCV002003243 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with a personal history of breast or ovarian cancer (Nguyen-Dumont 2018); This variant is associated with the following publications: (PMID: 29351780)
Labcorp Genetics (formerly Invitae), Labcorp RCV001242413 SCV001415499 uncertain significance Fanconi anemia 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1489 of the FANCM protein (p.Gly1489Arg). This variant is present in population databases (rs183784665, gnomAD 0.009%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 29351780). ClinVar contains an entry for this variant (Variation ID: 803021). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000989211 SCV001139440 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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