ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp)

gnomAD frequency: 0.00009  dbSNP: rs946862124
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936261 SCV002201804 uncertain significance Fanconi anemia 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1277 of the FANCM protein (p.Asn1277Asp). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1428347). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%).
GeneDx RCV003126007 SCV003803163 uncertain significance not provided 2024-02-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in an individual with colorectal cancer (PMID: 34326862); This variant is associated with the following publications: (PMID: 34326862)
Ambry Genetics RCV003167308 SCV003879114 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.3829A>G (p.N1277D) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a A to G substitution at nucleotide position 3829, causing the asparagine (N) at amino acid position 1277 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003126007 SCV004218785 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing

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