ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)

gnomAD frequency: 0.00017  dbSNP: rs146975341
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703875 SCV000832799 likely benign Fanconi anemia 2024-01-16 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000703875 SCV001775512 uncertain significance Fanconi anemia 2021-07-29 criteria provided, single submitter clinical testing The FANCA c.3848A>G (p.Lys1283Arg) missense change has a maximum subpopulation frequency of 0.017% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-89806488-T-C). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001274520 SCV002525948 uncertain significance Fanconi anemia complementation group A 2022-02-17 criteria provided, single submitter clinical testing The FANCA c.3848A>G (p.Lys1283Arg) missense change has a maximum subpopulation frequency of 0.017% in gnomAD v2.1.1 ( https://gnomad.broadinstitute.org/variant/16-89806488-T-C ). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4.
Ambry Genetics RCV002534419 SCV003676383 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.3848A>G (p.K1283R) alteration is located in exon 39 (coding exon 39) of the FANCA gene. This alteration results from a A to G substitution at nucleotide position 3848, causing the lysine (K) at amino acid position 1283 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274520 SCV001458749 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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