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NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu) AND Prostate cancer, hereditary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 29, 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:
RCV002293297.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)]

NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)

Gene:
BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_004333.6(BRAF):c.1379G>A (p.Gly460Glu)
HGVS:
  • NC_000007.14:g.140781629C>T
  • NG_007873.3:g.148136G>A
  • NM_001354609.2:c.1379G>A
  • NM_001374244.1:c.1499G>A
  • NM_001374258.1:c.1499G>A
  • NM_001378467.1:c.1388G>A
  • NM_001378468.1:c.1379G>A
  • NM_001378469.1:c.1313G>A
  • NM_001378470.1:c.1277G>A
  • NM_001378471.1:c.1268G>A
  • NM_001378472.1:c.1223G>A
  • NM_001378473.1:c.1223G>A
  • NM_001378474.1:c.1379G>A
  • NM_001378475.1:c.1115G>A
  • NM_004333.6:c.1379G>AMANE SELECT
  • NP_001341538.1:p.Gly460Glu
  • NP_001361173.1:p.Gly500Glu
  • NP_001361187.1:p.Gly500Glu
  • NP_001365396.1:p.Gly463Glu
  • NP_001365397.1:p.Gly460Glu
  • NP_001365398.1:p.Gly438Glu
  • NP_001365399.1:p.Gly426Glu
  • NP_001365400.1:p.Gly423Glu
  • NP_001365401.1:p.Gly408Glu
  • NP_001365402.1:p.Gly408Glu
  • NP_001365403.1:p.Gly460Glu
  • NP_001365404.1:p.Gly372Glu
  • NP_004324.2:p.Gly460Glu
  • NP_004324.2:p.Gly460Glu
  • LRG_299t1:c.1379G>A
  • LRG_299:g.148136G>A
  • LRG_299p1:p.Gly460Glu
  • NC_000007.13:g.140481429C>T
  • NM_004333.4:c.1379G>A
Protein change:
G372E
Molecular consequence:
  • NM_001354609.2:c.1379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1313G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1379G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002586288Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca
no assertion criteria provided
Uncertain significance
(Jul 29, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Moroccangermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV002586288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Moroccannot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024