• delete

NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) AND multiple conditions

Clinical significance:Benign (Last evaluated: Jan 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001662157.1

Allele description

NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)
Other names:
p.T1242A:ACT>GCT
HGVS:
  • NC_000017.11:g.43091807T>C
  • NG_005905.2:g.126177A>G
  • NM_007294.3:c.3724A>G
  • NM_007294.4:c.3724A>GMANE SELECT
  • NM_007297.4:c.3583A>G
  • NM_007298.3:c.788-775A>G
  • NM_007299.4:c.788-775A>G
  • NM_007300.4:c.3724A>G
  • NP_009225.1:p.Thr1242Ala
  • NP_009225.1:p.Thr1242Ala
  • NP_009228.2:p.Thr1195Ala
  • NP_009231.2:p.Thr1242Ala
  • LRG_292t1:c.3724A>G
  • LRG_292:g.126177A>G
  • LRG_292p1:p.Thr1242Ala
  • NC_000017.10:g.41243824T>C
  • NM_007294.4:c.3724A>G
  • NR_027676.2:n.3901A>G
  • U14680.1:n.3843A>G
  • p.T1242A
Protein change:
T1195A
Links:
dbSNP: rs80357037
NCBI 1000 Genomes Browser:
rs80357037
Molecular consequence:
  • NM_007298.3:c.788-775A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-775A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.3724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.3901A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370
Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001878330Research and Development, ARUP Laboratoriescriteria provided, single submitter
Benign
(Jan 20, 2020)
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880.

PubMed [citation]
PMID:
18951446
PMCID:
PMC3075918

Details of each submission

From Research and Development, ARUP Laboratories, SCV001878330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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