NM_004333.6(BRAF):c.1342_1343insT (p.Asp448fs) AND Prostate cancer, hereditary, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 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:: RCV002293368.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1342_1343insT (p.Asp448fs)]

NM_004333.6(BRAF):c.1342_1343insT (p.Asp448fs)

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.1342_1343insT (p.Asp448fs)

HGVS:

NC_000007.14:g.140781665_140781666insA
NG_007873.3:g.148099_148100insT
NM_001354609.2:c.1342_1343insT
NM_001374244.1:c.1462_1463insT
NM_001374258.1:c.1462_1463insT
NM_001378467.1:c.1351_1352insT
NM_001378468.1:c.1342_1343insT
NM_001378469.1:c.1276_1277insT
NM_001378470.1:c.1240_1241insT
NM_001378471.1:c.1231_1232insT
NM_001378472.1:c.1186_1187insT
NM_001378473.1:c.1186_1187insT
NM_001378474.1:c.1342_1343insT
NM_001378475.1:c.1078_1079insT
NM_004333.6:c.1342_1343insTMANE SELECT
NP_001341538.1:p.Asp448fs
NP_001361173.1:p.Asp488fs
NP_001361187.1:p.Asp488fs
NP_001365396.1:p.Asp451fs
NP_001365397.1:p.Asp448fs
NP_001365398.1:p.Asp426fs
NP_001365399.1:p.Asp414fs
NP_001365400.1:p.Asp411fs
NP_001365401.1:p.Asp396fs
NP_001365402.1:p.Asp396fs
NP_001365403.1:p.Asp448fs
NP_001365404.1:p.Asp360fs
NP_004324.2:p.Asp448Valfs
NP_004324.2:p.Asp448fs
LRG_299t1:c.1342_1343insT
LRG_299:g.148099_148100insT
LRG_299p1:p.Asp448Valfs
NC_000007.13:g.140481465_140481466insA
NM_004333.4:c.1342_1343insT

Protein change:

D360fs

Molecular consequence:

NM_001354609.2:c.1342_1343insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374244.1:c.1462_1463insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374258.1:c.1462_1463insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378467.1:c.1351_1352insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378468.1:c.1342_1343insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378469.1:c.1276_1277insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378470.1:c.1240_1241insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378471.1:c.1231_1232insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378472.1:c.1186_1187insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378473.1:c.1186_1187insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378474.1:c.1342_1343insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378475.1:c.1078_1079insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004333.6:c.1342_1343insT - 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
SCV002586360	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 23, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002586360

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 23, 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, SCV002586360.1

#	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

ClinVar

Relating variation to medicine