NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Noonan syndrome 1

Germline classification:: Pathogenic (2 submissions)
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:: RCV003150930.2

Allele description [Variation Report for NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)]

NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)

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.736G>C (p.Ala246Pro)

Other names:

p.A246P:GCA>CCA; NM_004333.4(BRAF):c.736G>C

HGVS:

NC_000007.14:g.140801536C>G
NG_007873.3:g.128229G>C
NM_001354609.2:c.736G>C
NM_001374244.1:c.736G>C
NM_001374258.1:c.736G>C
NM_001378467.1:c.745G>C
NM_001378468.1:c.736G>C
NM_001378469.1:c.736G>C
NM_001378470.1:c.634G>C
NM_001378471.1:c.736G>C
NM_001378472.1:c.580G>C
NM_001378473.1:c.580G>C
NM_001378474.1:c.736G>C
NM_001378475.1:c.472G>C
NM_004333.6:c.736G>CMANE SELECT
NP_001341538.1:p.Ala246Pro
NP_001361173.1:p.Ala246Pro
NP_001361187.1:p.Ala246Pro
NP_001365396.1:p.Ala249Pro
NP_001365397.1:p.Ala246Pro
NP_001365398.1:p.Ala246Pro
NP_001365399.1:p.Ala212Pro
NP_001365400.1:p.Ala246Pro
NP_001365401.1:p.Ala194Pro
NP_001365402.1:p.Ala194Pro
NP_001365403.1:p.Ala246Pro
NP_001365404.1:p.Ala158Pro
NP_004324.2:p.Ala246Pro
LRG_299t1:c.736G>C
LRG_299:g.128229G>C
NC_000007.13:g.140501336C>G
NM_001374258.1:c.736G>C
NM_004333.4:c.736G>C
P15056:p.Ala246Pro

Protein change:

A158P; ALA246PRO

Links:

UniProtKB: P15056#VAR_026113; OMIM: 164757.0012; dbSNP: rs180177034

NCBI 1000 Genomes Browser:

rs180177034

Molecular consequence:

NM_001354609.2:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.745G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.634G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.580G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.580G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.472G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.736G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Noonan syndrome 1 (NS1)
Synonyms:: Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:: MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003840167	Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	no assertion criteria provided	Pathogenic	unknown	research
SCV004190072	Molecular Genetics, Centre for Human Genetics	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003840167

Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

no assertion criteria provided

Pathogenic

unknown

research

SCV004190072

Molecular Genetics, Centre for Human Genetics

no assertion criteria provided

Pathogenic

de novo

clinical testing

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	not provided	not provided	clinical testing
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand, SCV003840167.1

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

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

From Molecular Genetics, Centre for Human Genetics, SCV004190072.1

#	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	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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