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NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535465.6

Allele description [Variation Report for NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)]

NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
Other names:
p.R798*:CGA>TGA
HGVS:
  • NC_000017.11:g.61716051G>A
  • NG_007409.2:g.152509C>T
  • NM_032043.3:c.2392C>TMANE SELECT
  • NP_114432.2:p.Arg798Ter
  • NP_114432.2:p.Arg798Ter
  • LRG_300t1:c.2392C>T
  • LRG_300:g.152509C>T
  • LRG_300p1:p.Arg798Ter
  • NC_000017.10:g.59793412G>A
  • NM_032043.2:c.2392C>T
  • p.Arg798*
  • p.Arg798Stop
  • p.R798*
Protein change:
R798*; ARG798TER
Links:
OMIM: 605882.0003; dbSNP: rs137852986
NCBI 1000 Genomes Browser:
rs137852986
Molecular consequence:
  • NM_032043.3:c.2392C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Fanconi anemia complementation group J
Identifiers:
MONDO: MONDO:0012187; MedGen: C1836860; Orphanet: 84; OMIM: 609054
Name:
BRIP1-related disorder
Synonyms:
BRIP1-Related Disorders; BRIP1-related condition
Identifiers:
MedGen: CN239206

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749386GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown2not providednot provided2not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749386.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided
2not provided1not providednot providedphenotyping onlynot provided

Description

Variant reported in multiple Invitae PIN participants. Variant interpreted as Pathogenic and reported most recently on 7/20/2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided
2unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024