NM_152594.3(SPRED1):c.-294_-293CT[2] AND Rasopathy

Clinical significance:Likely benign (Last evaluated: May 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778167.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.-294_-293CT[2]]

NM_152594.3(SPRED1):c.-294_-293CT[2]

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.-294_-293CT[2]
HGVS:
  • NC_000015.10:g.38252892_38252893CT[2]
  • NG_008980.1:g.5042_5043CT[2]
  • NM_152594.3:c.-294_-293CT[2]MANE SELECT
  • NC_000015.9:g.38545093_38545094CT[2]
Links:
dbSNP: rs1048605006
NCBI 1000 Genomes Browser:
rs1048605006
Molecular consequence:
  • NM_152594.3:c.-294_-293CT[2] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000914246Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalcriteria provided, single submitter
Likely benign
(May 23, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000914246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

Patient has a pathogenic variant in NF1

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

Last Updated: Jan 16, 2021

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