NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs) AND Prostate cancer, hereditary, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 3, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002293357.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs)]

NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs)

Gene:

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.1348_1349insC (p.Trp450fs)

HGVS:

NC_000007.14:g.140781659_140781660insG
NG_007873.3:g.148105_148106insC
NM_001354609.2:c.1348_1349insC
NM_001374244.1:c.1468_1469insC
NM_001374258.1:c.1468_1469insC
NM_001378467.1:c.1357_1358insC
NM_001378468.1:c.1348_1349insC
NM_001378469.1:c.1282_1283insC
NM_001378470.1:c.1246_1247insC
NM_001378471.1:c.1237_1238insC
NM_001378472.1:c.1192_1193insC
NM_001378473.1:c.1192_1193insC
NM_001378474.1:c.1348_1349insC
NM_001378475.1:c.1084_1085insC
NM_004333.6:c.1348_1349insCMANE SELECT
NP_001341538.1:p.Trp450fs
NP_001361173.1:p.Trp490fs
NP_001361187.1:p.Trp490fs
NP_001365396.1:p.Trp453fs
NP_001365397.1:p.Trp450fs
NP_001365398.1:p.Trp428fs
NP_001365399.1:p.Trp416fs
NP_001365400.1:p.Trp413fs
NP_001365401.1:p.Trp398fs
NP_001365402.1:p.Trp398fs
NP_001365403.1:p.Trp450fs
NP_001365404.1:p.Trp362fs
NP_004324.2:p.Trp450Serfs
NP_004324.2:p.Trp450fs
LRG_299t1:c.1348_1349insC
LRG_299:g.148105_148106insC
LRG_299p1:p.Trp450Serfs
NC_000007.13:g.140481459_140481460insG
NM_004333.4:c.1348_1349insC

Protein change:

W362fs

Molecular consequence:

NM_001354609.2:c.1348_1349insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374244.1:c.1468_1469insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374258.1:c.1468_1469insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378467.1:c.1357_1358insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378468.1:c.1348_1349insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378469.1:c.1282_1283insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378470.1:c.1246_1247insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378471.1:c.1237_1238insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378472.1:c.1192_1193insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378473.1:c.1192_1193insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378474.1:c.1348_1349insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378475.1:c.1084_1085insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004333.6:c.1348_1349insC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Prostate cancer, hereditary, 1 (HPC1)
Identifiers:: MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002586349	Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca	no assertion criteria provided	Uncertain significance (Aug 3, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002586349

Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca

no assertion criteria provided

Uncertain significance
(Aug 3, 2022)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV002586349.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Moroccan	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 5, 2022

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Relating variation to medicine