NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 11, 2017
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:: RCV000623633.10

Allele description [Variation Report for NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)]

NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)

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.1600G>C (p.Gly534Arg)

HGVS:

NC_000007.14:g.140777006C>G
NG_007873.3:g.152759G>C
NM_001354609.2:c.1600G>C
NM_001374244.1:c.1720G>C
NM_001374258.1:c.1720G>C
NM_001378467.1:c.1609G>C
NM_001378468.1:c.1600G>C
NM_001378469.1:c.1534G>C
NM_001378470.1:c.1498G>C
NM_001378471.1:c.1489G>C
NM_001378472.1:c.1444G>C
NM_001378473.1:c.1444G>C
NM_001378474.1:c.1600G>C
NM_001378475.1:c.1336G>C
NM_004333.6:c.1600G>CMANE SELECT
NP_001341538.1:p.Gly534Arg
NP_001361173.1:p.Gly574Arg
NP_001361187.1:p.Gly574Arg
NP_001365396.1:p.Gly537Arg
NP_001365397.1:p.Gly534Arg
NP_001365398.1:p.Gly512Arg
NP_001365399.1:p.Gly500Arg
NP_001365400.1:p.Gly497Arg
NP_001365401.1:p.Gly482Arg
NP_001365402.1:p.Gly482Arg
NP_001365403.1:p.Gly534Arg
NP_001365404.1:p.Gly446Arg
NP_004324.2:p.Gly534Arg
LRG_299t1:c.1600G>C
LRG_299:g.152759G>C
LRG_299p1:p.Gly534Arg
NC_000007.13:g.140476806C>G
NM_004333.4:c.1600G>C

Protein change:

G446R; GLY534ARG

Links:

OMIM: 164757.0020; dbSNP: rs180177041

NCBI 1000 Genomes Browser:

rs180177041

Molecular consequence:

NM_001354609.2:c.1600G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1720G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1720G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1609G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1600G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1534G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1498G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1489G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1444G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1444G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1600G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1336G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1600G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742637	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Jul 11, 2017)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 24283439, 16804887, 18413255, 23875798, 18039235, 19206169, 16825433, 4386970, 5771505, 16523510 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742637

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Jul 11, 2017)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Morice-Picard F, Ezzedine K, Delrue MA, Arveiler B, Fergelot P, Taïeb A, Lacombe D, Boralevi F.

Pediatr Dermatol. 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171. Review.

PubMed [citation]

PMID:: 24283439

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.

Rauen KA.

Am J Med Genet A. 2006 Aug 1;140(15):1681-3. No abstract available.

PubMed [citation]

PMID:: 16804887

See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000742637.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	not provided	clinical testing	PubMed (10)

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

Last Updated: Jul 7, 2024

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