NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Thyroid cancer, nonmedullary, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2005
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000015000.9

Allele description [Variation Report for NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)]

NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)

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.1801A>G (p.Lys601Glu)

HGVS:

NC_000007.14:g.140753334T>C
NG_007873.3:g.176431A>G
NM_001354609.2:c.1801A>G
NM_001374244.1:c.1921A>G
NM_001374258.1:c.1921A>G
NM_001378467.1:c.1810A>G
NM_001378468.1:c.1801A>G
NM_001378469.1:c.1735A>G
NM_001378470.1:c.1699A>G
NM_001378471.1:c.1690A>G
NM_001378472.1:c.1645A>G
NM_001378473.1:c.1645A>G
NM_001378474.1:c.1801A>G
NM_001378475.1:c.1537A>G
NM_004333.6:c.1801A>GMANE SELECT
NP_001341538.1:p.Lys601Glu
NP_001361173.1:p.Lys641Glu
NP_001361187.1:p.Lys641Glu
NP_001365396.1:p.Lys604Glu
NP_001365397.1:p.Lys601Glu
NP_001365398.1:p.Lys579Glu
NP_001365399.1:p.Lys567Glu
NP_001365400.1:p.Lys564Glu
NP_001365401.1:p.Lys549Glu
NP_001365402.1:p.Lys549Glu
NP_001365403.1:p.Lys601Glu
NP_001365404.1:p.Lys513Glu
NP_004324.2:p.Lys601Glu
LRG_299t1:c.1801A>G
LRG_299:g.176431A>G
NC_000007.13:g.140453134T>C
NM_004333.4:c.1801A>G
P15056:p.Lys601Glu
c.1801A>G

Protein change:

K513E; LYS601GLU

Links:

UniProtKB: P15056#VAR_018630; OMIM: 164757.0005; dbSNP: rs121913364

NCBI 1000 Genomes Browser:

rs121913364

Molecular consequence:

NM_001354609.2:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1921A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1921A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1810A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1735A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1699A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1690A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1537A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Thyroid cancer, nonmedullary, 2 (NMTC2)
Synonyms:: Thyroid carcinoma, follicular, somatic; THYROID CANCER, NONMEDULLARY, 2, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0008566; MedGen: C4225426; OMIM: 188470

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035256	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2005)	somatic	literature only	PubMed (3) [See all records that cite these PMIDs] 12198537, 12960123, 16187918

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035256

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2005)

somatic

literature only

PubMed (3)
[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	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.

Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE.

Nature. 2002 Aug 29;418(6901):934.

PubMed [citation]

PMID:: 12198537

BRAF mutations in metastatic melanoma: a possible association with clinical outcome.

Kumar R, Angelini S, Czene K, Sauroja I, Hahka-Kemppinen M, Pyrhönen S, Hemminki K.

Clin Cancer Res. 2003 Aug 15;9(9):3362-8.

PubMed [citation]

PMID:: 12960123

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035256.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

Colorectal Cancer

In a colorectal tumor (see 114500), Rajagopalan et al. (2002) identified an A-to-G transition at nucleotide 1798 of the BRAF gene, resulting in a lys-glu at codon 600 (K600E). This mutation was heterozygous and occurred somatically. Based on the revised numbering system of Kumar et al. (2003), the LYS600GLU (1798A-G) mutation has been renumbered as LYS601GLU (1801A-G).

Thyroid Carcinoma, Follicular

In a patient with congenital hypothyroidism and long-standing goiter due to mutation in the thyroglobulin gene (see TG, 188540; and TDH3, 274700), who was also found to have multifocal follicular carcinoma of the thyroid, Hishinuma et al. (2005) identified somatic heterozygosity for the K601E mutation in the BRAF gene in the cancerous thyroid tissue.

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

Last Updated: Apr 20, 2024

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