NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 2018
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:: RCV000663063.2

Allele description [Variation Report for NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)]

NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)

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.2324A>G (p.Asn775Ser)

HGVS:

NC_000017.11:g.61743068T>C
NG_007409.2:g.125492A>G
NM_032043.3:c.2324A>GMANE SELECT
NP_114432.2:p.Asn775Ser
NP_114432.2:p.Asn775Ser
LRG_300t1:c.2324A>G
LRG_300:g.125492A>G
LRG_300p1:p.Asn775Ser
NC_000017.10:g.59820429T>C
NM_032043.2:c.2324A>G
p.N775S

Protein change:

N775S

Links:

dbSNP: rs571108955

NCBI 1000 Genomes Browser:

rs571108955

Molecular consequence:

NM_032043.3:c.2324A>G - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786124	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Feb 27, 2018)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 26689913, 27498913, 24728327, 26824983, 26580448 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

SCV000786124

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Feb 27, 2018)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]

PMID:: 26689913
PMCID:: PMC4703835

Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

Ballinger ML, Goode DL, Ray-Coquard I, James PA, Mitchell G, Niedermayr E, Puri A, Schiffman JD, Dite GS, Cipponi A, Maki RG, Brohl AS, Myklebost O, Stratford EW, Lorenz S, Ahn SM, Ahn JH, Kim JE, Shanley S, Beshay V, Randall RL, Judson I, et al.

Lancet Oncol. 2016 Sep;17(9):1261-71. doi: 10.1016/S1470-2045(16)30147-4. Epub 2016 Aug 4.

PubMed [citation]

PMID:: 27498913

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000786124.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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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