NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 7, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000207518.7

Allele description [Variation Report for NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)]

NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)

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.1502A>G (p.Glu501Gly)

Other names:

p.E501G:GAA>GGA

HGVS:

NC_000007.14:g.140778006T>C
NG_007873.3:g.151759A>G
NM_001354609.2:c.1502A>G
NM_001374244.1:c.1622A>G
NM_001374258.1:c.1622A>G
NM_001378467.1:c.1511A>G
NM_001378468.1:c.1502A>G
NM_001378469.1:c.1436A>G
NM_001378470.1:c.1400A>G
NM_001378471.1:c.1391A>G
NM_001378472.1:c.1346A>G
NM_001378473.1:c.1346A>G
NM_001378474.1:c.1502A>G
NM_001378475.1:c.1238A>G
NM_004333.6:c.1502A>GMANE SELECT
NP_001341538.1:p.Glu501Gly
NP_001361173.1:p.Glu541Gly
NP_001361187.1:p.Glu541Gly
NP_001365396.1:p.Glu504Gly
NP_001365397.1:p.Glu501Gly
NP_001365398.1:p.Glu479Gly
NP_001365399.1:p.Glu467Gly
NP_001365400.1:p.Glu464Gly
NP_001365401.1:p.Glu449Gly
NP_001365402.1:p.Glu449Gly
NP_001365403.1:p.Glu501Gly
NP_001365404.1:p.Glu413Gly
NP_004324.2:p.Glu501Gly
LRG_299t1:c.1502A>G
LRG_299:g.151759A>G
NC_000007.13:g.140477806T>C
NM_004333.4:c.1502A>G
P15056:p.Glu501Gly
c.1502A>G

Protein change:

E413G; GLU501GLY

Links:

UniProtKB: P15056#VAR_026117; OMIM: 164757.0018; dbSNP: rs180177039

NCBI 1000 Genomes Browser:

rs180177039

Molecular consequence:

NM_001354609.2:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1511A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1436A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1346A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1238A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057222	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 7, 2022)	germline	clinical testing	Citation Link,
SCV000263066	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 23, 2015)	de novo	clinical testing	PubMed (6) [See all records that cite these PMIDs] 16474404, 16439621, 18413255, 17366577, 17704260, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057222

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 7, 2022)

germline

clinical testing

Citation Link,

SCV000263066

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 23, 2015)

de novo

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, et al.

Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.

PubMed [citation]

PMID:: 16474404

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA.

Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26.

PubMed [citation]

PMID:: 16439621

See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000057222.16

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 23093928, 16439621, 18413255, 17366577, 16474404, 24803665, 32959227, 30732632, 30141192, 30094826, 17704260, 17483702)

#	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

From Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000263066.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

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

Last Updated: Sep 29, 2024

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