NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Dec 29, 2015
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:: RCV000207513.2

Allele description

NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)

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_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)

HGVS:

NC_000007.14:g.140778007C>T
NG_007873.3:g.151758G>A
NM_001354609.2:c.1501G>A
NM_001374244.1:c.1621G>A
NM_001374258.1:c.1621G>AMANE SELECT
NM_001378467.1:c.1510G>A
NM_001378468.1:c.1501G>A
NM_001378469.1:c.1435G>A
NM_001378470.1:c.1399G>A
NM_001378471.1:c.1390G>A
NM_001378472.1:c.1345G>A
NM_001378473.1:c.1345G>A
NM_001378474.1:c.1501G>A
NM_001378475.1:c.1237G>A
NM_004333.6:c.1501G>A
NP_001341538.1:p.Glu501Lys
NP_001361173.1:p.Glu541Lys
NP_001361187.1:p.Glu541Lys
NP_001365396.1:p.Glu504Lys
NP_001365397.1:p.Glu501Lys
NP_001365398.1:p.Glu479Lys
NP_001365399.1:p.Glu467Lys
NP_001365400.1:p.Glu464Lys
NP_001365401.1:p.Glu449Lys
NP_001365402.1:p.Glu449Lys
NP_001365403.1:p.Glu501Lys
NP_001365404.1:p.Glu413Lys
NP_004324.2:p.Glu501Lys
LRG_299t1:c.1501G>A
LRG_299:g.151758G>A
NC_000007.13:g.140477807C>T
NM_004333.4:c.1501G>A
P15056:p.Glu501Lys
p.Glu501Gln

Protein change:

E413K; GLU501LYS

Links:

UniProtKB: P15056#VAR_026118; OMIM: 164757.0017; dbSNP: rs180177038

NCBI 1000 Genomes Browser:

rs180177038

Molecular consequence:

NM_001354609.2:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000263065	Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 22, 2015)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16474404, 16439621, 19206169, 25741868
SCV000338452	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Dec 29, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16439621, 16474404, 17603482, 19206169 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000263065

Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 22, 2015)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV000338452

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Dec 29, 2015)

germline

clinical testing

PubMed (4)
[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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	2	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

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 (5)

Details of each submission

From Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children, SCV000263065.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)
2	not provided	1	not provided	not provided	clinical testing	PubMed (4)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000338452.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

#	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		1	not provided	not provided	not provided

Last Updated: Jul 7, 2021

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