NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: May 23, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000844616.1

Allele description [Variation Report for NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)]

NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)

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_001374258.1(BRAF):c.1621G>A (p.Glu541Lys)
HGVS:
  • NC_000007.14:g.140778007C>T
  • NG_007873.3:g.151758G>A
  • NM_001354609.2:c.1501G>A
  • NM_001374244.1:c.1621G>A
  • NM_001374258.1:c.1621G>AMANE SELECT
  • NM_001378467.1:c.1510G>A
  • NM_001378468.1:c.1501G>A
  • NM_001378469.1:c.1435G>A
  • NM_001378470.1:c.1399G>A
  • NM_001378471.1:c.1390G>A
  • NM_001378472.1:c.1345G>A
  • NM_001378473.1:c.1345G>A
  • NM_001378474.1:c.1501G>A
  • NM_001378475.1:c.1237G>A
  • NM_004333.6:c.1501G>A
  • NP_001341538.1:p.Glu501Lys
  • NP_001361173.1:p.Glu541Lys
  • NP_001361187.1:p.Glu541Lys
  • NP_001365396.1:p.Glu504Lys
  • NP_001365397.1:p.Glu501Lys
  • NP_001365398.1:p.Glu479Lys
  • NP_001365399.1:p.Glu467Lys
  • NP_001365400.1:p.Glu464Lys
  • NP_001365401.1:p.Glu449Lys
  • NP_001365402.1:p.Glu449Lys
  • NP_001365403.1:p.Glu501Lys
  • NP_001365404.1:p.Glu413Lys
  • NP_004324.2:p.Glu501Lys
  • LRG_299t1:c.1501G>A
  • LRG_299:g.151758G>A
  • NC_000007.13:g.140477807C>T
  • NM_004333.4:c.1501G>A
  • P15056:p.Glu501Lys
  • p.Glu501Gln
Protein change:
E413K; GLU501LYS
Links:
UniProtKB: P15056#VAR_026118; OMIM: 164757.0017; dbSNP: rs180177038
NCBI 1000 Genomes Browser:
rs180177038
Molecular consequence:
  • NM_001354609.2:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1435G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950
Name:
Cardio-facio-cutaneous syndrome
Synonyms:
Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:
MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000197148Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedPathogenic
(May 23, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing

Citations

PubMed

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, et al.

Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.

PubMed [citation]
PMID:
16474404

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA.

Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26.

PubMed [citation]
PMID:
16439621
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000197148.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (4)

Description

The Glu501Lys variant in BRAF has been previously identified in four patients wi th clinical features of the Noonan spectrum (Razzaque 2007, LMM unpublished data ) and reportedly occurred de novo in two patients with Cardio-facio-cutaneous sy ndrome (CFC; Niihori 2006, Rodriguez-Viciana 2006). In addition, this variant wa s absent from large population studies. In summary, this variant meets our crite ria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

Last Updated: Jul 7, 2021

Support Center