Submissions for variant NM_198253.3(TERT):c.1574-7G>A

gnomAD frequency: 0.00220  dbSNP: rs34846301

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223338	SCV000270915	likely benign	not specified	2016-01-29	criteria provided, single submitter	clinical testing	c.1574-7G>A in intron 2 of TERT: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (57/10146) of African chromos omes. including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs34846301).
Invitae	RCV002517509	SCV000561732	benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154647	SCV001316025	likely benign	Dyskeratosis congenita, autosomal dominant 2	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001154648	SCV001316026	likely benign	Aplastic anemia	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001154649	SCV001316027	benign	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	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.
Genetic Services Laboratory, University of Chicago	RCV000223338	SCV002066626	benign	not specified	2020-12-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256125	SCV002533108	likely benign	Dyskeratosis congenita	2020-12-22	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002494561	SCV002802623	likely benign	Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9	2022-05-16	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316194	SCV004015607	benign	Acute myeloid leukemia	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003457653	SCV004185253	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TERT: BP4, BS2