Submissions for variant NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)

gnomAD frequency: 0.00343  dbSNP: rs145110602

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000236495	SCV000294249	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000503767	SCV000594665	benign	not specified	2018-11-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000721015	SCV000851899	uncertain significance	History of neurodevelopmental disorder	2013-03-16	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.This variant was previously reported in the SNPDatabase as rs145110602. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.25% (5/1997) total male alleles studied and but was not observed in the homozygous state out of 3381females studied. The A-allele was observed in 0.96% (5/522) African American male alleles but was absent out of 1475 European American male alleles studied. Based on data from the 1000 Genomes Project, the A-allele has an overall frequency of approximately 2/1048 (0.19%) and the highest frequency was in 2/48 (4.17%) African-American SW male chromosomes studied.This amino acid position is not conserved on species alignment.This alteration is predicted to be benign with a score of 0.002 (sensitivity: 0.99; specificity: 0.17)This alteration is predicted to be tolerated with a score of 0.390 (conservation: 2.57)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316313	SCV004017598	benign	Fanconi anemia complementation group B	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930015	SCV004745426	benign	FANCB-related condition	2019-09-18	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000503767	SCV001800787	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727653	SCV001971103	likely benign	not provided		no assertion criteria provided	clinical testing