NM_004333.6(BRAF):c.1332G>A (p.Arg444=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 18, 2013
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:: RCV000037911.12

Allele description [Variation Report for NM_004333.6(BRAF):c.1332G>A (p.Arg444=)]

NM_004333.6(BRAF):c.1332G>A (p.Arg444=)

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.1332G>A (p.Arg444=)

Other names:

p.R444R; NM_004333.4(BRAF):c.1332G>A

HGVS:

NC_000007.14:g.140781676C>T
NG_007873.3:g.148089G>A
NM_001354609.2:c.1332G>A
NM_001374244.1:c.1452G>A
NM_001374258.1:c.1452G>A
NM_001378467.1:c.1341G>A
NM_001378468.1:c.1332G>A
NM_001378469.1:c.1266G>A
NM_001378470.1:c.1230G>A
NM_001378471.1:c.1221G>A
NM_001378472.1:c.1176G>A
NM_001378473.1:c.1176G>A
NM_001378474.1:c.1332G>A
NM_001378475.1:c.1068G>A
NM_004333.6:c.1332G>AMANE SELECT
NP_001341538.1:p.Arg444=
NP_001361173.1:p.Arg484=
NP_001361187.1:p.Arg484=
NP_001365396.1:p.Arg447=
NP_001365397.1:p.Arg444=
NP_001365398.1:p.Arg422=
NP_001365399.1:p.Arg410=
NP_001365400.1:p.Arg407=
NP_001365401.1:p.Arg392=
NP_001365402.1:p.Arg392=
NP_001365403.1:p.Arg444=
NP_001365404.1:p.Arg356=
NP_004324.2:p.Arg444=
LRG_299t1:c.1332G>A
LRG_299:g.148089G>A
NC_000007.13:g.140481476C>T
NM_004333.4:c.1332G>A
NP_004324.2:p.(=)
c.1332G>A
p.Arg444Arg

Links:

dbSNP: rs56101602

NCBI 1000 Genomes Browser:

rs56101602

Molecular consequence:

NM_001354609.2:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374244.1:c.1452G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374258.1:c.1452G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378467.1:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378468.1:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378469.1:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378470.1:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378471.1:c.1221G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378472.1:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378473.1:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378474.1:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378475.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004333.6:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000058305	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Mar 18, 2013)	germline	clinical testing	Citation Link,
SCV000061573	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Oct 16, 2012)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 12960123, 15578519, 16619251, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000058305

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Mar 18, 2013)

germline

clinical testing

Citation Link,

SCV000061573

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Oct 16, 2012)

germline

clinical testing

PubMed (4)
[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	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	6	6	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level.

Helmke BM, Mollenhauer J, Herold-Mende C, Benner A, Thome M, Gassler N, Wahl W, Lyer S, Poustka A, Otto HF, Deichmann M.

Gastroenterology. 2004 Dec;127(6):1815-20.

PubMed [citation]

PMID:: 15578519

See all PubMed Citations (4)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000058305.9

#	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061573.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	PubMed (4)

Description

Arg444Arg in exon 11 of BRAF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 0.16% (14/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs56101602)

#	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		6	not provided	6	not provided

Last Updated: Oct 20, 2024

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