A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

Mucaki, Eliseos J.; Caminsky, Natasha G.; Perri, Ami M.; Lu, Ruipeng; Laederach, Alain; Halvorsen, Matthew; Knoll, Joan H. M.; Rogan, Peter K.

doi:10.1186/s12920-016-0178-5

Table 4 Variants resulting in premature protein truncation

From: A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

Patient ID	Gene	Exon	mRNA Protein	rsID (dbSNP 142)	ClinVar^d,e,f	Details	Ref
Patient ID	Gene	Exon	mRNA Protein	Allele Frequency (%)^c	ClinVar^d,e,f	Details	Ref
Insertions/Deletions
5-1B	BRCA1	15 of 23	c.4964_4982del19^a	rs80359876	6^d; Pathogenic/likely pathogenic^e; Familial breast and breast-ovarian cancer, Hereditary cancer-predisposing syndrome^f.	STOP at p.1670	-
5-1B	BRCA1	15 of 23	p.Ser1655Tyrfs	rs80359876		193 AA short	-
5-3C	BRCA1	19 of 23	c.5266_5267insC^a	rs397507247	13^d; Pathogenic, risk factor^e; Familial breast, breast-ovarian, and pancreatic cancer, Hereditary cancer-predisposing syndrome^f.	STOP at p.1788	[148, 154]
5-3C	BRCA1	19 of 23	p.Gln1756Profs	rs397507247		75 AA short	[148, 154]
5-3A	PALB2	4 of 13	c.1617_1618insTT^a	-	1^d; Pathogenic^e; Hereditary cancer-predisposing syndrome^f.	STOP at p.561	-
5-3A	PALB2	4 of 13	p.Asn540Leufs	-		626 AA short	-
Stop Codons
7-1G	BRCA2	15 of 27	c.7558C > T^b	rs80358981	5^d; Pathogenic^e; Familial breast, and breast-ovarian cancer, Hereditary cancer-predisposing syndrome^f.	899 AA short	[158]
7-1G	BRCA2	15 of 27	p.Arg2520Ter	rs80358981		899 AA short	[158]
4-4A	BRCA2	25 of 27	c.9294C > G^a	rs80359200	3^d; Pathogenic^e; Familial breast and breast-ovarian cancer^f.	321 AA short	[159]
4-4A	BRCA2	25 of 27	p.Tyr3098Ter	rs80359200		321 AA short	[159]
7-3A	PALB2	4 of 13	c.1240C > T^a	rs180177100	3^d; Pathogenic^e; Familial breast cancer, Hereditary cancer-predisposing syndrome^f.	773 AA short	[58]
7-3A	PALB2	4 of 13	p.Arg414Ter	rs180177100		773 AA short	[58]
4-4D	PALB2	4 of 13	c.1042C > T^a	Novel	-	839 AA short	-
4-4D	PALB2	4 of 13	p.Gln348Ter	Novel	-	839 AA short	-

^aConfirmed by Sanger sequencing
^bNot confirmed by Sanger sequencing
^cIf available
^dNumber of submissions
^eClinical significance
^fCondition(s)

Back to article page

ISSN: 1755-8794

Contact us

Submission enquiries: bmcmedicalgenomics@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Medical Genomics

Contact us