NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) AND Rasopathy

Clinical significance:Benign (Last evaluated: Apr 18, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000033300.10

Allele description [Variation Report for NM_001374258.1(BRAF):c.1452G>A (p.Arg484=)]

NM_001374258.1(BRAF):c.1452G>A (p.Arg484=)

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.1452G>A (p.Arg484=)
Other names:
p.R444R; NM_004333.4(BRAF):c.1332G>A
HGVS:
  • NC_000007.14:g.140781676C>T
  • NG_007873.3:g.148089G>A
  • NM_001354609.2:c.1332G>A
  • NM_001374244.1:c.1452G>A
  • NM_001374258.1:c.1452G>AMANE SELECT
  • NM_001378467.1:c.1341G>A
  • NM_001378468.1:c.1332G>A
  • NM_001378469.1:c.1266G>A
  • NM_001378470.1:c.1230G>A
  • NM_001378471.1:c.1221G>A
  • NM_001378472.1:c.1176G>A
  • NM_001378473.1:c.1176G>A
  • NM_001378474.1:c.1332G>A
  • NM_001378475.1:c.1068G>A
  • NM_004333.6:c.1332G>A
  • NP_001341538.1:p.Arg444=
  • NP_001361173.1:p.Arg484=
  • NP_001361187.1:p.Arg484=
  • NP_001365396.1:p.Arg447=
  • NP_001365397.1:p.Arg444=
  • NP_001365398.1:p.Arg422=
  • NP_001365399.1:p.Arg410=
  • NP_001365400.1:p.Arg407=
  • NP_001365401.1:p.Arg392=
  • NP_001365402.1:p.Arg392=
  • NP_001365403.1:p.Arg444=
  • NP_001365404.1:p.Arg356=
  • NP_004324.2:p.Arg444=
  • LRG_299t1:c.1332G>A
  • LRG_299:g.148089G>A
  • NC_000007.13:g.140481476C>T
  • NM_004333.4:c.1332G>A
  • NP_004324.2:p.(=)
  • c.1332G>A
  • p.Arg444Arg
Links:
dbSNP: rs56101602
NCBI 1000 Genomes Browser:
rs56101602
Molecular consequence:
  • NM_001354609.2:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374244.1:c.1452G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374258.1:c.1452G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378467.1:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378468.1:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378469.1:c.1266G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378470.1:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378471.1:c.1221G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378472.1:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378473.1:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378474.1:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378475.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004333.6:c.1332G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Rasopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: CN166718

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057205GeneDxcriteria provided, single submitter
POLYunknownclinical testing

Citation Link,

SCV000252785Invitaecriteria provided, single submitter
Benign
(Dec 8, 2020)
germlineclinical testing

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

SCV000616458ClinGen RASopathy Variant Curation Expert Panelreviewed by expert panel
Benign
(Apr 18, 2017)
germlinecuration

Citation Link

Summary from all submissions

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV000057205.3

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

Description

Converted during submission to Benign.

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

From Invitae, SCV000252785.7

#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, SCV000616458.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency of the c.1332G>A (p.Arg444=) variant in the BRAF gene is 0.077% (64/66708) of European 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: Aug 27, 2021

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