Hypothesis

Table 2 Mutations in BC associated genes detected by NGS in a series of 45 Lebanese patients

PatientID: B22

KindredID: 3

Case: Sex Unknown, Age Unknown, Lebanese

DiseaseAssertion: breast cancer

FamilyInfo: Familial breast cancer noted; no other specifics provided.

CasePresentingHPOs: HP:0003002 (breast carcinoma)

CaseHPOFreeText: Patient has familial breast cancer (table 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.M221L (c.631A>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 182990, https://www.ncbi.nlm.nih.gov/clinvar/variation/182990/

CAID: N/A

gnomAD: 0.00002127, https://gnomad.broadinstitute.org/variant/3-10191638-A-C

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: M221L (c.631A>C)

MultipleGeneVariants: Germline, BRCA2, c.5744C>T (p.T1915M); Germline, ARL11, c.446G>A (p.W149*); Germline, TP53, c.215C>G (p.P72R); Germline, ERCC3, c.508C>T (p.R170X); Germline, MRE11A, c.1491C>T (p.I497I); Germline, PTCH1, c.4054G>A (p.V1352I)

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion AssumedRefSeq:NM_000551.3 DiseaseEntity:breastcarcinoma Familial CivicName:M221L(c.631A>C) cDNAPosition:631 ProteinPosition:221 AminoAcidChange:METtoLEU ClinVarID:Yes ClinVarID:182990 Ethnicity:Lebanese MultipleGeneVariants inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL