U.S. flag

An official website of the United States government

NM_004333.6(BRAF):c.1699T>G (p.Leu567Val) AND Noonan syndrome

Germline classification:
Uncertain significance (1 submission)
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:
RCV001261047.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)]

NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)

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.1699T>G (p.Leu567Val)
HGVS:
  • NC_000007.14:g.140754229A>C
  • NG_007873.3:g.175536T>G
  • NM_001354609.2:c.1699T>G
  • NM_001374244.1:c.1819T>G
  • NM_001374258.1:c.1819T>G
  • NM_001378467.1:c.1708T>G
  • NM_001378468.1:c.1699T>G
  • NM_001378469.1:c.1633T>G
  • NM_001378470.1:c.1597T>G
  • NM_001378471.1:c.1588T>G
  • NM_001378472.1:c.1543T>G
  • NM_001378473.1:c.1543T>G
  • NM_001378474.1:c.1699T>G
  • NM_001378475.1:c.1435T>G
  • NM_004333.6:c.1699T>GMANE SELECT
  • NP_001341538.1:p.Leu567Val
  • NP_001361173.1:p.Leu607Val
  • NP_001361187.1:p.Leu607Val
  • NP_001365396.1:p.Leu570Val
  • NP_001365397.1:p.Leu567Val
  • NP_001365398.1:p.Leu545Val
  • NP_001365399.1:p.Leu533Val
  • NP_001365400.1:p.Leu530Val
  • NP_001365401.1:p.Leu515Val
  • NP_001365402.1:p.Leu515Val
  • NP_001365403.1:p.Leu567Val
  • NP_001365404.1:p.Leu479Val
  • NP_004324.2:p.Leu567Val
  • LRG_299t1:c.1699T>G
  • LRG_299:g.175536T>G
  • NC_000007.13:g.140454029A>C
  • NM_004333.4:c.1699T>G
  • NM_004333.5:c.1699T>G
Protein change:
L479V
Links:
Molecular consequence:
  • NM_001354609.2:c.1699T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1819T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1819T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1708T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1699T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1633T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1597T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1543T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1543T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1699T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1435T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1699T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001438449Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001438449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Mar 22, 2025