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NC_000017.10:g.(?_59770781)_(59938900_?)del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 2, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001387715.3

Allele description [Variation Report for NC_000017.10:g.(?_59770781)_(59938900_?)del]

NC_000017.10:g.(?_59770781)_(59938900_?)del

Gene:
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q23.2
Genomic location:
Chr17: 59770781 - 59938900 (on Assembly GRCh37)
Preferred name:
NC_000017.10:g.(?_59770781)_(59938900_?)del
HGVS:
NC_000017.10:g.(?_59770781)_(59938900_?)del

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Fanconi anemia complementation group J
Identifiers:
MONDO: MONDO:0012187; MedGen: C1836860; Orphanet: 84; OMIM: 609054

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001588406Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 2, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H.

Nat Genet. 2005 Sep;37(9):934-5. Epub 2005 Aug 21.

PubMed [citation]
PMID:
16116423

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK)., Easton DF, Stratton MR, Rahman N.

Nat Genet. 2006 Nov;38(11):1239-41. Epub 2006 Oct 8.

PubMed [citation]
PMID:
17033622
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001588406.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exons 2-18 of the BRIP1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 18 of the BRIP1 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRIP1-related conditions. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023