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NM_004333.6(BRAF):c.*7T>C AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 10, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000150196.6

Allele description [Variation Report for NM_004333.6(BRAF):c.*7T>C]

NM_004333.6(BRAF):c.*7T>C

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.*7T>C
HGVS:
  • NC_000007.14:g.140734590A>G
  • NG_007873.3:g.195175T>C
  • NM_001354609.2:c.2281+27T>C
  • NM_001374244.1:c.*7T>C
  • NM_001374258.1:c.2401+27T>C
  • NM_001378467.1:c.2290+27T>C
  • NM_001378468.1:c.2127+5222T>C
  • NM_001378469.1:c.*7T>C
  • NM_001378470.1:c.2179+27T>C
  • NM_001378471.1:c.2170+27T>C
  • NM_001378472.1:c.2125+27T>C
  • NM_001378473.1:c.*7T>C
  • NM_001378474.1:c.2127+5222T>C
  • NM_001378475.1:c.2017+27T>C
  • NM_004333.6:c.*7T>CMANE SELECT
  • LRG_299t1:c.*7T>C
  • LRG_299:g.195175T>C
  • NC_000007.13:g.140434390A>G
  • NM_004333.4:c.*7T>C
  • NM_004333.6(BRAF):c.*7T>CMANE SELECT
Links:
dbSNP: rs727502903
NCBI 1000 Genomes Browser:
rs727502903
Molecular consequence:
  • NM_001374244.1:c.*7T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378469.1:c.*7T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001378473.1:c.*7T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004333.6:c.*7T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354609.2:c.2281+27T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374258.1:c.2401+27T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378467.1:c.2290+27T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378468.1:c.2127+5222T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378470.1:c.2179+27T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378471.1:c.2170+27T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378472.1:c.2125+27T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378474.1:c.2127+5222T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378475.1:c.2017+27T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000197118Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Aug 6, 2010) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004020965Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 10, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197118.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The 2301+7T>C variant in BRAF occurs in the 3' UTR. This variant has not been pr eviously reported in the literature or been identified in our laboratory. This v ariant is not located in a region of high nucleotide conservation; however, this type of variant has not been previously reported as pathogenic in an individual with a Noonan spectrum disorder. The 3'UTR contains regulatory elements essenti al for the regulation and transport of the mRNA transcript, and variants in this region could result in dysregulation or disruption of these functions. While it is likely that this variant is benign, we cannot rule out that it may contribut e to the clinical features observed in this individual.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004020965.1

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

Last Updated: Oct 13, 2024