NM_004333.4(BRAF):c.1741A>C (p.Asn581His) AND Rasopathy

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Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 20, 2009
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000049223.1

Allele description

NM_004333.4(BRAF):c.1741A>C (p.Asn581His)

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_004333.4(BRAF):c.1741A>C (p.Asn581His)

HGVS:

NC_000007.14:g.140754187T>G
NG_007873.3:g.175578A>C
NM_004333.4:c.1741A>C
NP_004324.2:p.Asn581His
LRG_299t1:c.1741A>C
LRG_299:g.175578A>C
LRG_299p1:p.Asn581His
NC_000007.13:g.140453987T>G

Protein change:

N581H

Links:

dbSNP: rs180177040

Molecular consequence:

NM_004333.4:c.1741A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rasopathy
Synonyms:: rasopathies; Noonan syndrome and Noonan-related syndrome
Identifiers:: MedGen: CN166718

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000077237	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	MUT (May 20, 2009)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000077237

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

MUT
(May 20, 2009)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000077237.2

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

Description

Converted during submission to pathogenic.

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

Last Updated: Jan 23, 2017

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