NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763894.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)]

NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
HGVS:
  • NC_000013.11:g.32340981T>C
  • NG_012772.3:g.30502T>C
  • NM_000059.3:c.6626T>C
  • NM_000059.4:c.6626T>CMANE SELECT
  • NP_000050.2:p.Ile2209Thr
  • NP_000050.3:p.Ile2209Thr
  • LRG_293t1:c.6626T>C
  • LRG_293:g.30502T>C
  • LRG_293p1:p.Ile2209Thr
  • NC_000013.10:g.32915118T>C
Nucleotide change:
6854T>C
Protein change:
I2209T
Links:
dbSNP: rs431825344
NCBI 1000 Genomes Browser:
rs431825344
Molecular consequence:
  • NM_000059.3:c.6626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.6626T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related Breast Cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555
Name:
Fanconi anemia, complementation group D1 (FANCD1)
Identifiers:
MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724
Name:
Medulloblastoma (MDB)
Synonyms:
Medulloblastoma, somatic
Identifiers:
MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
Name:
Wilms tumor 1 (WT1)
Synonyms:
Bilateral Wilms tumor; Wilms tumor, somatic
Identifiers:
MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070
Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125
Name:
Pancreatic cancer 2 (PNCA2)
Synonyms:
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
Identifiers:
MONDO: MONDO:0013235; MedGen: C3150546; Orphanet: 1333; OMIM: 613347
Name:
Glioma susceptibility 3 (GLM3)
Identifiers:
MONDO: MONDO:0013093; MedGen: C2751641; Orphanet: 182067; Orphanet: 360; OMIM: 613029

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000894829Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000894829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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