NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) AND Noonan syndrome 7

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 13, 2021
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:: RCV001374414.2

Allele description [Variation Report for NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)]

NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)

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.2135C>A (p.Ala712Asp)

HGVS:

NC_000007.14:g.140734763G>T
NG_007873.3:g.195002C>A
NM_001354609.2:c.2135C>A
NM_001374244.1:c.2255C>A
NM_001374258.1:c.2255C>A
NM_001378467.1:c.2144C>A
NM_001378468.1:c.2127+5049C>A
NM_001378469.1:c.2069C>A
NM_001378470.1:c.2033C>A
NM_001378471.1:c.2024C>A
NM_001378472.1:c.1979C>A
NM_001378473.1:c.1979C>A
NM_001378474.1:c.2127+5049C>A
NM_001378475.1:c.1871C>A
NM_004333.6:c.2135C>AMANE SELECT
NP_001341538.1:p.Ala712Asp
NP_001361173.1:p.Ala752Asp
NP_001361187.1:p.Ala752Asp
NP_001365396.1:p.Ala715Asp
NP_001365398.1:p.Ala690Asp
NP_001365399.1:p.Ala678Asp
NP_001365400.1:p.Ala675Asp
NP_001365401.1:p.Ala660Asp
NP_001365402.1:p.Ala660Asp
NP_001365404.1:p.Ala624Asp
NP_004324.2:p.Ala712Asp
LRG_299t1:c.2135C>A
LRG_299:g.195002C>A
NC_000007.13:g.140434563G>T
NM_004333.4:c.2135C>A

Protein change:

A624D

Links:

dbSNP: rs727502904

NCBI 1000 Genomes Browser:

rs727502904

Molecular consequence:

NM_001378468.1:c.2127+5049C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001378474.1:c.2127+5049C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354609.2:c.2135C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.2255C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.2255C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.2144C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.2069C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.2033C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.2024C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1979C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1979C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1871C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.2135C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Noonan syndrome 7 (NS7)
Identifiers:: MONDO: MONDO:0013379; MedGen: C3150970; Orphanet: 648; OMIM: 613706

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571369	Centre for Inherited Metabolic Diseases, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 13, 2021)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001571369

Centre for Inherited Metabolic Diseases, Karolinska University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 13, 2021)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	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

Details of each submission

From Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SCV001571369.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	clinical testing	PubMed (1)

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

Last Updated: May 7, 2024

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