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NM_004333.6(BRAF):c.-19C>T AND RASopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 2, 2012
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:
RCV000034331.14

Allele description [Variation Report for NM_004333.6(BRAF):c.-19C>T]

NM_004333.6(BRAF):c.-19C>T

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.-19C>T
HGVS:
  • NC_000007.14:g.140924722G>A
  • NG_007873.3:g.5043C>T
  • NM_001354609.2:c.-19C>T
  • NM_001374244.1:c.-19C>T
  • NM_001374258.1:c.-19C>T
  • NM_001378467.1:c.-19C>T
  • NM_001378468.1:c.-19C>T
  • NM_001378469.1:c.-19C>T
  • NM_001378470.1:c.-19C>T
  • NM_001378471.1:c.-19C>T
  • NM_001378474.1:c.-19C>T
  • NM_001378475.1:c.-19C>T
  • NM_004333.6:c.-19C>TMANE SELECT
  • LRG_299t1:c.-19C>T
  • LRG_299:g.5043C>T
  • NC_000007.13:g.140624522G>A
  • NM_004333.4:c.-19C>T
Links:
dbSNP: rs71645935
NCBI 1000 Genomes Browser:
rs71645935
Molecular consequence:
  • NM_001354609.2:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374244.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374258.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378467.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378468.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378469.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378470.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378471.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378474.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001378475.1:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004333.6:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
RASopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: C5555857

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077235GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Mar 2, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000077235.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The variant is found in NOONAN panel(s).

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

Last Updated: Aug 25, 2024