NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 13, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001174976.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs)]

NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs)

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.1327_1388dup (p.Gly464fs)

HGVS:

NC_000007.14:g.140781621_140781682dup
NG_007873.3:g.148084_148145dup
NM_001354609.2:c.1327_1388dup
NM_001374244.1:c.1447_1508dup
NM_001374258.1:c.1447_1508dup
NM_001378467.1:c.1336_1397dup
NM_001378468.1:c.1327_1388dup
NM_001378469.1:c.1261_1322dup
NM_001378470.1:c.1225_1286dup
NM_001378471.1:c.1216_1277dup
NM_001378472.1:c.1171_1232dup
NM_001378473.1:c.1171_1232dup
NM_001378474.1:c.1327_1388dup
NM_001378475.1:c.1063_1124dup
NM_004333.6:c.1327_1388dupMANE SELECT
NP_001341538.1:p.Gly464fs
NP_001361173.1:p.Gly504fs
NP_001361187.1:p.Gly504fs
NP_001365396.1:p.Gly467fs
NP_001365397.1:p.Gly464fs
NP_001365398.1:p.Gly442fs
NP_001365399.1:p.Gly430fs
NP_001365400.1:p.Gly427fs
NP_001365401.1:p.Gly412fs
NP_001365402.1:p.Gly412fs
NP_001365403.1:p.Gly464fs
NP_001365404.1:p.Gly376fs
NP_004324.2:p.Gly464fs
LRG_299t1:c.1327_1388dup62
LRG_299:g.148084_148145dup
NC_000007.13:g.140481421_140481482dup
NM_004333.4:c.1327_1388dup62

Protein change:

G376fs

Links:

dbSNP: rs1800883856

NCBI 1000 Genomes Browser:

rs1800883856

Molecular consequence:

NM_001354609.2:c.1327_1388dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374244.1:c.1447_1508dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374258.1:c.1447_1508dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378467.1:c.1336_1397dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378468.1:c.1327_1388dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378469.1:c.1261_1322dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378470.1:c.1225_1286dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378471.1:c.1216_1277dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378472.1:c.1171_1232dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378473.1:c.1171_1232dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378474.1:c.1327_1388dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378475.1:c.1063_1124dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004333.6:c.1327_1388dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001338462	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Apr 13, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001338462

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Apr 13, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338462.1

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

Description

Variant summary: BRAF c.1327_1388dup62 (p.Gly464AspfsX40) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. The variant was absent in 251426 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1327_1388dup62 in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 17, 2022

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