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NM_004333.6(BRAF):c.2127+3A>G AND RASopathy

Germline classification:
Benign (2 submissions)
Last evaluated:
Apr 18, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000157707.17

Allele description [Variation Report for NM_004333.6(BRAF):c.2127+3A>G]

NM_004333.6(BRAF):c.2127+3A>G

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.2127+3A>G
HGVS:
  • NC_000007.14:g.140739809T>C
  • NG_007873.3:g.189956A>G
  • NM_001354609.2:c.2127+3A>G
  • NM_001374244.1:c.2247+3A>G
  • NM_001374258.1:c.2247+3A>G
  • NM_001378467.1:c.2136+3A>G
  • NM_001378468.1:c.2127+3A>G
  • NM_001378469.1:c.2061+3A>G
  • NM_001378470.1:c.2025+3A>G
  • NM_001378471.1:c.2016+3A>G
  • NM_001378472.1:c.1971+3A>G
  • NM_001378473.1:c.1971+3A>G
  • NM_001378474.1:c.2127+3A>G
  • NM_001378475.1:c.1863+3A>G
  • NM_004333.6:c.2127+3A>GMANE SELECT
  • LRG_299t1:c.2127+3A>G
  • LRG_299:g.189956A>G
  • NC_000007.13:g.140439609T>C
  • NM_004333.4:c.2127+3A>G
Links:
dbSNP: rs371976102
NCBI 1000 Genomes Browser:
rs371976102
Molecular consequence:
  • NM_001354609.2:c.2127+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374244.1:c.2247+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374258.1:c.2247+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378467.1:c.2136+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378468.1:c.2127+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378469.1:c.2061+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378470.1:c.2025+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378471.1:c.2016+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378472.1:c.1971+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378473.1:c.1971+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378474.1:c.2127+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378475.1:c.1863+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004333.6:c.2127+3A>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000260141Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 28, 2024) 		germlineclinical testing

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

SCV000616454ClinGen RASopathy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen RASopathy ACMG Specifications v1)		Benign
(Apr 18, 2017) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000260141.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ClinGen RASopathy Variant Curation Expert Panel, SCV000616454.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency of the c.2127+3A>G variant in the BRAF gene is 0.151% (23/10398) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)

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

Last Updated: Oct 13, 2024