NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) 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:
2 submissions [Details]
Record status:
current
Accession:
RCV000033301.8

Allele description [Variation Report for NM_001374258.1(BRAF):c.1503A>G (p.Gln501=)]

NM_001374258.1(BRAF):c.1503A>G (p.Gln501=)

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.1503A>G (p.Gln501=)
Other names:
p.Q461Q; NM_004333.4(BRAF):c.1383A>G
HGVS:
  • NC_000007.14:g.140781625T>C
  • NG_007873.3:g.148140A>G
  • NM_001354609.2:c.1383A>G
  • NM_001374244.1:c.1503A>G
  • NM_001374258.1:c.1503A>GMANE SELECT
  • NM_001378467.1:c.1392A>G
  • NM_001378468.1:c.1383A>G
  • NM_001378469.1:c.1317A>G
  • NM_001378470.1:c.1281A>G
  • NM_001378471.1:c.1272A>G
  • NM_001378472.1:c.1227A>G
  • NM_001378473.1:c.1227A>G
  • NM_001378474.1:c.1383A>G
  • NM_001378475.1:c.1119A>G
  • NM_004333.6:c.1383A>G
  • NP_001341538.1:p.Gln461=
  • NP_001361173.1:p.Gln501=
  • NP_001361187.1:p.Gln501=
  • NP_001365396.1:p.Gln464=
  • NP_001365397.1:p.Gln461=
  • NP_001365398.1:p.Gln439=
  • NP_001365399.1:p.Gln427=
  • NP_001365400.1:p.Gln424=
  • NP_001365401.1:p.Gln409=
  • NP_001365402.1:p.Gln409=
  • NP_001365403.1:p.Gln461=
  • NP_001365404.1:p.Gln373=
  • NP_004324.2:p.Gln461=
  • LRG_299t1:c.1383A>G
  • LRG_299:g.148140A>G
  • NC_000007.13:g.140481425T>C
  • NM_004333.4:c.1383A>G
  • NP_004324.2:p.(=)
  • c.1383A>G
  • p.Gln461Gln
Links:
dbSNP: rs56216404
NCBI 1000 Genomes Browser:
rs56216404
Molecular consequence:
  • NM_001354609.2:c.1383A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374244.1:c.1503A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374258.1:c.1503A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378467.1:c.1392A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378468.1:c.1383A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378469.1:c.1317A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378470.1:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378471.1:c.1272A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378472.1:c.1227A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378473.1:c.1227A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378474.1:c.1383A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378475.1:c.1119A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004333.6:c.1383A>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
SCV000563674Invitaecriteria provided, single submitter
Benign
(Nov 5, 2020)
germlineclinical testing

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

SCV000616457ClinGen 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

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, SCV000563674.6

#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, SCV000616457.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency of the c.1383A>G (p.Gln461=) variant in the BRAF gene is 0.986% (120/10404) 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: Nov 27, 2021

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