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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 14, 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:: RCV000312325.9

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 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 (FA)
Synonyms:: Fanconi pancytopenia; Fanconi's anemia
Identifiers:: MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000404595	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Pathogenic (Jun 14, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16116423, 16116424, 26968956 ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000404595

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Pathogenic
(Jun 14, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H.

Nat Genet. 2005 Sep;37(9):934-5. Epub 2005 Aug 21.

PubMed [citation]

PMID:: 16116423

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD.

Nat Genet. 2005 Sep;37(9):931-3. Epub 2005 Aug 21.

PubMed [citation]

PMID:: 16116424

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000404595.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.2393C>T (p.Arg798Ter) variant is a stop-gained variant, described in three studies in which it is found in 18 Fanconi anemia patients, including 11 in a homozygous state, three in a compound heterozygous state, and in five alleles of unspecified zygosity (Levitus et al. 2005; Levran et al. 2005; Ghazwani et al. 2016). The p.Arg798Ter variant was absent from 50 controls but is reported at a frequency of 0.00024 in the European (Non-Finnish) population of the Exome Aggregation Consortium. Based on the potential impact of stop-gained variants and the evidence from the literature, the p.Arg798Ter variant is classified as pathogenic for Fanconi anemia.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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