NM_004333.6(BRAF):c.1351dup (p.Glu451fs) AND Prostate cancer, hereditary, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 28, 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:: RCV002293369.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1351dup (p.Glu451fs)]

NM_004333.6(BRAF):c.1351dup (p.Glu451fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.1351dup (p.Glu451fs)

HGVS:

NC_000007.14:g.140781659dup
NG_007873.3:g.148108dup
NM_001354609.2:c.1351dup
NM_001374244.1:c.1471dup
NM_001374258.1:c.1471dup
NM_001378467.1:c.1360dup
NM_001378468.1:c.1351dup
NM_001378469.1:c.1285dup
NM_001378470.1:c.1249dup
NM_001378471.1:c.1240dup
NM_001378472.1:c.1195dup
NM_001378473.1:c.1195dup
NM_001378474.1:c.1351dup
NM_001378475.1:c.1087dup
NM_004333.6:c.1351dupMANE SELECT
NP_001341538.1:p.Glu451fs
NP_001361173.1:p.Glu491fs
NP_001361187.1:p.Glu491fs
NP_001365396.1:p.Glu454fs
NP_001365397.1:p.Glu451fs
NP_001365398.1:p.Glu429fs
NP_001365399.1:p.Glu417fs
NP_001365400.1:p.Glu414fs
NP_001365401.1:p.Glu399fs
NP_001365402.1:p.Glu399fs
NP_001365403.1:p.Glu451fs
NP_001365404.1:p.Glu363fs
NP_004324.2:p.Glu451Glyfs
NP_004324.2:p.Glu451fs
LRG_299t1:c.1349dup
LRG_299:g.148108dup
LRG_299p1:p.Glu451Glyfs
NC_000007.13:g.140481459dup
NM_001378473.1:c.1195_1196insG
NM_004333.4:c.1349dup

Protein change:

E363fs

Molecular consequence:

NM_001354609.2:c.1351dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374244.1:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374258.1:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378467.1:c.1360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378468.1:c.1351dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378469.1:c.1285dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378470.1:c.1249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378471.1:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378472.1:c.1195dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378473.1:c.1195dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378474.1:c.1351dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378475.1:c.1087dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004333.6:c.1351dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Homo sapiens HOX transcript antisense RNA (HOTAIR), transcript variant 2, long n...
Homo sapiens HOX transcript antisense RNA (HOTAIR), transcript variant 2, long non-coding RNA
gi|2518023285|ref|NR_003716.4|

Nucleotide
dual specificity protein phosphatase 6 isoform a [Homo sapiens]
dual specificity protein phosphatase 6 isoform a [Homo sapiens]
gi|42764683|ref|NP_001937.2|

Protein
Homo sapiens, clone RP11-83K1, complete sequence
Homo sapiens, clone RP11-83K1, complete sequence
gi|10280826|gnl|WIBR|L1606|gb|AC012 1|AC012531

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002586361	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 28, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002586361

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 28, 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, SCV002586361.1

#	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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