NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: May 14, 2025
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:: RCV000224291.31

Allele description [Variation Report for NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)]

NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)

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.78G>T (p.Glu26Asp)

Other names:

p.E26D:GAG>GAT

HGVS:

NC_000007.14:g.140924626C>A
NG_007873.3:g.5139G>T
NM_001354609.2:c.78G>T
NM_001374244.1:c.78G>T
NM_001374258.1:c.78G>T
NM_001378467.1:c.78G>T
NM_001378468.1:c.78G>T
NM_001378469.1:c.78G>T
NM_001378470.1:c.78G>T
NM_001378471.1:c.78G>T
NM_001378474.1:c.78G>T
NM_001378475.1:c.78G>T
NM_004333.6:c.78G>TMANE SELECT
NP_001341538.1:p.Glu26Asp
NP_001361173.1:p.Glu26Asp
NP_001361187.1:p.Glu26Asp
NP_001365396.1:p.Glu26Asp
NP_001365397.1:p.Glu26Asp
NP_001365398.1:p.Glu26Asp
NP_001365399.1:p.Glu26Asp
NP_001365400.1:p.Glu26Asp
NP_001365403.1:p.Glu26Asp
NP_001365404.1:p.Glu26Asp
NP_004324.2:p.Glu26Asp
NP_004324.2:p.Glu26Asp
LRG_299t1:c.78G>T
LRG_299:g.5139G>T
LRG_299p1:p.Glu26Asp
NC_000007.13:g.140624426C>A
NM_004333.4:c.78G>T
c.78G>T

Protein change:

E26D

Links:

dbSNP: rs371877084

Molecular consequence:

NM_001354609.2:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.78G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.78G>T - 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
SCV000281152	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 28, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000602656	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (May 14, 2025)	germline	clinical testing	Citation Link,
SCV001798400	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV005226834	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]
SCV005909946	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Mar 1, 2025)	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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281152.2

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

Description

Converted during submission from Likely Benign to Likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.00167	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602656.7

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798400.1

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

From Breakthrough Genomics, Breakthrough Genomics, SCV005226834.1

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

#	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 CeGaT Center for Human Genetics Tuebingen, SCV005909946.6

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

Description

BRAF: BS1, BS2

#	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		1	not provided	not provided	not provided

Last Updated: Jul 27, 2026

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