NM_004333.6(BRAF):c.918C>G (p.Ser306=) AND Rasopathy

Clinical significance:Likely benign (Last evaluated: Jun 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089324.2

Allele description [Variation Report for NM_004333.6(BRAF):c.918C>G (p.Ser306=)]

NM_004333.6(BRAF):c.918C>G (p.Ser306=)

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.918C>G (p.Ser306=)
HGVS:
  • NC_000007.14:g.140800424G>C
  • NG_007873.3:g.129341C>G
  • NM_001354609.2:c.918C>G
  • NM_004333.6:c.918C>G
  • NP_001341538.1:p.Ser306=
  • NP_004324.2:p.Ser306=
  • LRG_299t1:c.918C>G
  • LRG_299:g.129341C>G
  • NC_000007.13:g.140500224G>C
  • NM_004333.4:c.918C>G
Links:
dbSNP: rs794727865
NCBI 1000 Genomes Browser:
rs794727865
Molecular consequence:
  • NM_001354609.2:c.918C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004333.6:c.918C>G - 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
SCV001018196Invitaecriteria provided, single submitter
Likely benign
(Jun 14, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Invitae, SCV001018196.3

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

Last Updated: Jun 23, 2021

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