• delete

NM_004333.4(BRAF):c.1592G>T (p.Trp531Leu) AND Rasopathy

Germline classification:
Pathogenic (1 submission)
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:
RCV000033323.2

Allele description

NM_004333.4(BRAF):c.1592G>T (p.Trp531Leu)

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_004333.4(BRAF):c.1592G>T (p.Trp531Leu)
HGVS:
  • NC_000007.14:g.140777014C>A
  • NG_007873.3:g.152751G>T
  • NM_004333.4:c.1592G>T
  • NP_004324.2:p.Trp531Leu
  • LRG_299t1:c.1592G>T
  • LRG_299:g.152751G>T
  • LRG_299p1:p.Trp531Leu
  • NC_000007.13:g.140476814C>A
Protein change:
W531L
Links:
dbSNP: rs397507478
NCBI 1000 Genomes Browser:
rs397507478
Molecular consequence:
  • NM_004333.4:c.1592G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rasopathy
Synonyms:
rasopathies; Noonan syndrome and Noonan-related syndrome
Identifiers:
MedGen: CN166718

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000057228GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		MUTunknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000057228.3

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

Description

Converted during submission to pathogenic.

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

Last Updated: Jan 23, 2017