NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 4, 2021
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:: RCV000034332.21

Allele description [Variation Report for NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)]

NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)

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>C (p.Lys601Gln)

HGVS:

NC_000007.14:g.140753334T>G
NG_007873.3:g.176431A>C
NM_001354609.2:c.1801A>C
NM_001374244.1:c.1921A>C
NM_001374258.1:c.1921A>C
NM_001378467.1:c.1810A>C
NM_001378468.1:c.1801A>C
NM_001378469.1:c.1735A>C
NM_001378470.1:c.1699A>C
NM_001378471.1:c.1690A>C
NM_001378472.1:c.1645A>C
NM_001378473.1:c.1645A>C
NM_001378474.1:c.1801A>C
NM_001378475.1:c.1537A>C
NM_004333.6:c.1801A>CMANE SELECT
NP_001341538.1:p.Lys601Gln
NP_001361173.1:p.Lys641Gln
NP_001361187.1:p.Lys641Gln
NP_001365396.1:p.Lys604Gln
NP_001365397.1:p.Lys601Gln
NP_001365398.1:p.Lys579Gln
NP_001365399.1:p.Lys567Gln
NP_001365400.1:p.Lys564Gln
NP_001365401.1:p.Lys549Gln
NP_001365402.1:p.Lys549Gln
NP_001365403.1:p.Lys601Gln
NP_001365404.1:p.Lys513Gln
NP_004324.2:p.Lys601Gln
LRG_299t1:c.1801A>C
LRG_299:g.176431A>C
LRG_299p1:p.Lys601Gln
NC_000007.13:g.140453134T>G
NM_004333.4:c.1801A>C
P15056:p.Lys601Gln

Protein change:

K513Q

Links:

UniProtKB: P15056#VAR_058629; dbSNP: rs121913364

NCBI 1000 Genomes Browser:

rs121913364

Molecular consequence:

NM_001354609.2:c.1801A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1921A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1921A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1810A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1801A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1735A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1699A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1690A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1801A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1537A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1801A>C - 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
SCV000058307	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Mar 18, 2013)	germline	clinical testing	Citation Link,
SCV000329760	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 4, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000058307

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Mar 18, 2013)

germline

clinical testing

Citation Link,

SCV000329760

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 4, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000058307.9

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

From GeneDx, SCV000329760.8

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

Description

Published functional studies of the K601Q variant have demonstrated that it results in the enhanced phosphorylation of MEK and ERK proteins (Sarkozy et al., 2009).; Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 19206169, 26619011, 16953233, 33753861, 24803665, 33040082, 33482860, 29493581, 17603483, 15520807, 16439621, 15488754, 24957944)

#	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

Last Updated: Nov 10, 2024

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