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NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND Noonan syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000999624.2

Allele description [Variation Report for NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)]

NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)

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.2034T>G (p.Asp678Glu)
Other names:
p.D638E:GAT>GAG
HGVS:
  • NC_000007.14:g.140749365A>C
  • NG_007873.3:g.180400T>G
  • NM_001354609.2:c.1914T>G
  • NM_001374244.1:c.2034T>G
  • NM_001374258.1:c.2034T>G
  • NM_001378467.1:c.1923T>G
  • NM_001378468.1:c.1914T>G
  • NM_001378469.1:c.1848T>G
  • NM_001378470.1:c.1812T>G
  • NM_001378471.1:c.1803T>G
  • NM_001378472.1:c.1758T>G
  • NM_001378473.1:c.1758T>G
  • NM_001378474.1:c.1914T>G
  • NM_001378475.1:c.1650T>G
  • NM_004333.6:c.1914T>GMANE SELECT
  • NP_001341538.1:p.Asp638Glu
  • NP_001361173.1:p.Asp678Glu
  • NP_001361187.1:p.Asp678Glu
  • NP_001365396.1:p.Asp641Glu
  • NP_001365397.1:p.Asp638Glu
  • NP_001365398.1:p.Asp616Glu
  • NP_001365399.1:p.Asp604Glu
  • NP_001365400.1:p.Asp601Glu
  • NP_001365401.1:p.Asp586Glu
  • NP_001365402.1:p.Asp586Glu
  • NP_001365403.1:p.Asp638Glu
  • NP_001365404.1:p.Asp550Glu
  • NP_004324.2:p.Asp638Glu
  • LRG_299t1:c.1914T>G
  • LRG_299:g.180400T>G
  • NC_000007.13:g.140449165A>C
  • NM_004333.4:c.1914T>G
  • NM_004333.5:c.1914T>G
  • P15056:p.Asp638Glu
Protein change:
D550E
Links:
UniProtKB: P15056#VAR_058630; dbSNP: rs180177042
NCBI 1000 Genomes Browser:
rs180177042
Molecular consequence:
  • NM_001354609.2:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.2034T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.2034T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1923T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1848T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1812T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1803T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1650T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001156331GenomeConnect - CFC International
no classification provided
not providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - CFC International, SCV001156331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 10-13-2014 by Lab or GTR ID 26957. GenomeConnect-CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024