NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2017
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:: RCV000576714.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)]

NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)

HGVS:

NC_000017.11:g.61683850del
NG_007409.2:g.184710del
NM_032043.3:c.3196delMANE SELECT
NP_114432.2:p.Ser1066fs
NP_114432.2:p.Ser1066fs
LRG_300t1:c.3196del
LRG_300:g.184710del
LRG_300p1:p.Ser1066fs
NC_000017.10:g.59761211del
NM_032043.2:c.3196del
NM_032043.2:c.3196delT
p.S1066HfsX12

Protein change:

S1066fs

Links:

dbSNP: rs730881645

NCBI 1000 Genomes Browser:

rs730881645

Molecular consequence:

NM_032043.3:c.3196del - 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:: Ovarian neoplasm
Synonyms:: Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000677806	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Jun 1, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20159562, 22792074, 25186627, 21127055 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677806

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely pathogenic
(Jun 1, 2017)

unknown

clinical testing

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

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

BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

Gong Z, Kim JE, Leung CC, Glover JN, Chen J.

Mol Cell. 2010 Feb 12;37(3):438-46. doi: 10.1016/j.molcel.2010.01.002.

PubMed [citation]

PMID:: 20159562
PMCID:: PMC3695484

FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

Xie J, Peng M, Guillemette S, Quan S, Maniatis S, Wu Y, Venkatesh A, Shaffer SA, Brosh RM Jr, Cantor SB.

PLoS Genet. 2012 Jul;8(7):e1002786. doi: 10.1371/journal.pgen.1002786. Epub 2012 Jul 5.

PubMed [citation]

PMID:: 22792074
PMCID:: PMC3390368

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000677806.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Sep 29, 2024

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