NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 13, 2018
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:: RCV000663176.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)]

NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)

Gene:

BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)

HGVS:

NC_000017.11:g.61684052_61684055del
NG_007409.2:g.184506_184509del
NM_032043.3:c.2992_2995delMANE SELECT
NP_114432.2:p.Lys998fs
NP_114432.2:p.Lys998fs
LRG_300t1:c.2992_2995del
LRG_300:g.184506_184509del
LRG_300p1:p.Lys998fs
NC_000017.10:g.59761412_59761415del
NC_000017.10:g.59761413_59761416del
NM_032043.2:c.2992_2995del
NM_032043.2:c.2992_2995delAAGA
p.K998EFS*60

Protein change:

K998fs

Links:

dbSNP: rs786203717

NCBI 1000 Genomes Browser:

rs786203717

Molecular consequence:

NM_032043.3:c.2992_2995del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fanconi anemia complementation group J
Identifiers:: MONDO: MONDO:0012187; MedGen: C1836860; Orphanet: 84; OMIM: 609054

Name:: Neoplasm of ovary
Synonyms:: Ovarian tumor; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; OMIM: 167000; Human Phenotype Ontology: HP:0100615

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786341	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Apr 13, 2018)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18628483, 29368626, 28423363 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786341

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Pathogenic
(Apr 13, 2018)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

De Nicolo A, Tancredi M, Lombardi G, Flemma CC, Barbuti S, Di Cristofano C, Sobhian B, Bevilacqua G, Drapkin R, Caligo MA.

Clin Cancer Res. 2008 Jul 15;14(14):4672-80. doi: 10.1158/1078-0432.CCR-08-0087.

PubMed [citation]

PMID:: 18628483
PMCID:: PMC2561321

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert AK, Müller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, et al.

Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.

PubMed [citation]

PMID:: 29368626
PMCID:: PMC5784717

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000786341.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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