NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 28, 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:: RCV000576546.5

Allele description [Variation Report for NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)]

NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)

HGVS:

NC_000017.11:g.61683655AGAT[1]
NG_007409.2:g.184900CTAT[1]
NM_032043.3:c.3390_3393delMANE SELECT
NP_114432.2:p.Tyr1131fs
LRG_300t1:c.3390_3393del
LRG_300:g.184900CTAT[1]
NC_000017.10:g.59761014_59761017del
NC_000017.10:g.59761016AGAT[1]
NM_032043.2:c.3390_3393del
NM_032043.2:c.3390_3393delCTAT

Protein change:

Y1131fs

Links:

dbSNP: rs778664039

NCBI 1000 Genomes Browser:

rs778664039

Molecular consequence:

NM_032043.3:c.3390_3393del - 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

Recent activity

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Homo sapiens protein phosphatase 6 regulatory subunit 3 (PPP6R3), transcript var...
Homo sapiens protein phosphatase 6 regulatory subunit 3 (PPP6R3), transcript variant 45, non-coding RNA
gi|1700447875|ref|NR_147969.2|

Nucleotide
Homo sapiens protein phosphatase 6 regulatory subunit 3 (PPP6R3), transcript var...
Homo sapiens protein phosphatase 6 regulatory subunit 3 (PPP6R3), transcript variant 42, non-coding RNA
gi|1700660455|ref|NR_147966.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000677837	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Nov 28, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677837

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely pathogenic
(Nov 28, 2016)

unknown

clinical testing

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, SCV000677837.2

#	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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