Submissions for variant NM_000135.4(FANCA):c.522+9G>C

gnomAD frequency: 0.00003  dbSNP: rs113051956

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000872155	SCV001013932	likely benign	Fanconi anemia	2024-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001817018	SCV002068041	uncertain significance	not specified	2020-06-11	criteria provided, single submitter	clinical testing	DNA sequence analysis of the FANCA gene demonstrated a sequence change in intron 5, c.522+9G>C. This change does not appear to have been previously described in patients with FANCA-related disorders and has been described in the gnomAD database in three individuals (dbSNP rs113051956). This sequence change affects a weakly conserved nucleotide and is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the FANCA gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
PreventionGenetics, part of Exact Sciences	RCV003930394	SCV004747795	likely benign	FANCA-related condition	2019-07-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).