NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 13, 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:: RCV000662858.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)]

NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)

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.1571_1573del (p.Gln524_Ile525delinsLeu)

HGVS:

NC_000017.11:g.61784325_61784327del
NG_007409.2:g.84233_84235del
NM_032043.3:c.1571_1573delMANE SELECT
NP_114432.2:p.Gln524_Ile525delinsLeu
NP_114432.2:p.Gln524_Ile525delinsLeu
LRG_300t1:c.1571_1573del
LRG_300:g.84233_84235del
LRG_300p1:p.Gln524_Ile525delinsLeu
NC_000017.10:g.59861686_59861688del
NM_032043.2:c.1571_1573del
NM_032043.2:c.1571_1573delAAA

Links:

dbSNP: rs1064795196

NCBI 1000 Genomes Browser:

rs1064795196

Molecular consequence:

NM_032043.3:c.1571_1573del - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV000785741	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Nov 13, 2017)	unknown	clinical testing	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

SCV000785741

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Nov 13, 2017)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000785741.2

#	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: Mar 5, 2024

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Relating variation to medicine