Submissions for variant NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)

gnomAD frequency: 0.00109  dbSNP: rs142959373

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080424	SCV000294248	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375315	SCV000481917	benign	VACTERL association, X-linked, with or without hydrocephalus	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000292661	SCV000481918	benign	Fanconi anemia complementation group B	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000437503	SCV000510657	likely benign	not provided	2016-12-12	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV000720996	SCV000851880	uncertain significance	History of neurodevelopmental disorder	2012-10-03	criteria provided, single submitter	clinical testing	Co-segregation data for this variant is currently unavailable.This variant has not been detected in conjunction with a pathogenic mutation to date.Based on data from the NHLBI Exome Sequencing Project (ESP), the C-allele was absent in 1997 male alleles studied and was not observed in the homozygous state in 3382 female alleles studied (http://browser.1000genomes.org Released July 2010). This amino acid position is not conserved on limited sequence alignment.This alteration is predicted to be possibly damaging with a score of 0.605 (sensitivity: 0.80; specificity: 0.82)This alteration is predicted to be tolerated with a score of 0.140 (conservation: 2.54)
Mendelics	RCV000990470	SCV001141472	likely benign	Fanconi anemia complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000437503	SCV001935770	benign	not provided	2019-05-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001726070	SCV002066090	benign	not specified	2021-01-12	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000292661	SCV004017599	benign	Fanconi anemia complementation group B	2023-07-07	criteria provided, single submitter	clinical testing
Center of Medical Genetics and Primary Health Care	RCV001269483	SCV001449050	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000437503	SCV001807070	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726070	SCV001966743	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907910	SCV004725151	benign	FANCB-related disorder	2021-04-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).