NM_032043.3(BRIP1):c.380-17dup AND Fanconi anemia complementation group J

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 27, 2016
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:: RCV000411395.4

Allele description [Variation Report for NM_032043.3(BRIP1):c.380-17dup]

NM_032043.3(BRIP1):c.380-17dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.380-17dup

HGVS:

NC_000017.11:g.61849280dup
NG_007409.2:g.19287dup
NM_032043.2:c.380-17dup
NM_032043.3:c.380-17dupMANE SELECT
LRG_300t1:c.380-17dup
LRG_300:g.19287dup
NC_000017.10:g.59926633_59926634insA
NC_000017.10:g.59926641dup
NM_032043.2:c.380-17dupT
NM_032043.3:c.380-17dupTMANE SELECT

Links:

dbSNP: rs545021924

NCBI 1000 Genomes Browser:

rs545021924

Molecular consequence:

NM_032043.3:c.380-17dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Nepeta racemosa voucher 81823 small subunit ribosomal RNA gene, partial sequence...
Nepeta racemosa voucher 81823 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2528218270|gb|OR197176.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489877	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Jun 27, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489877

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Jun 27, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

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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

Details of each submission

From Counsyl, SCV000489877.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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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