NM_152594.3(SPRED1):c.594T>C (p.Gly198=) AND Legius syndrome

Clinical significance:Likely benign (Last evaluated: Jul 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001506613.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.594T>C (p.Gly198=)]

NM_152594.3(SPRED1):c.594T>C (p.Gly198=)

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.594T>C (p.Gly198=)
HGVS:
  • NC_000015.10:g.38349433T>C
  • NG_008980.1:g.101583T>C
  • NM_152594.3:c.594T>CMANE SELECT
  • NP_689807.1:p.Gly198=
  • NC_000015.9:g.38641634T>C
  • NM_152594.2:c.594T>C
Links:
dbSNP: rs756643495
NCBI 1000 Genomes Browser:
rs756643495
Molecular consequence:
  • NM_152594.3:c.594T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Legius syndrome (LGSS)
Synonyms:
Neurofibromatosis type 1 like syndrome
Identifiers:
MONDO: MONDO:0012669; MedGen: C1969623; Orphanet: 137605; OMIM: 611431

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001711538Invitaecriteria provided, single submitter
Likely benign
(Jul 12, 2018)
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, SCV001711538.1

#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 14, 2021

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