Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001113378.2(FANCI):c.2907A>C(p.Leu969Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,613,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/24 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L969S) has been classified as Uncertain significance.
FANCI (HGNC:25568): (FA complementation group I) The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Our verdict: Likely_benign. The variant received -6 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.010856152).
BP6
Variant 15-89301343-A-C is Benign according to our data. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-89301343-A-C is described in CliVar as Likely_benign. Clinvar id is 456213.Status of the report is criteria_provided_single_submitter, 1 stars.