NM_001042492.3(NF1):c.1721+3A>G AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414938.1

Allele description [Variation Report for NM_001042492.3(NF1):c.1721+3A>G]

NM_001042492.3(NF1):c.1721+3A>G

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.1721+3A>G
HGVS:
  • NC_000017.11:g.31221932A>G
  • NG_009018.1:g.131956A>G
  • NM_000267.3:c.1721+3A>G
  • NM_001042492.2:c.1721+3A>G
  • NM_001042492.3:c.1721+3A>GMANE SELECT
  • NM_001128147.3:c.1724A>G
  • NP_001121619.1:p.Tyr575Cys
  • LRG_214t1:c.1721+3A>G
  • LRG_214t2:c.1721+3A>G
  • LRG_214:g.131956A>G
  • NC_000017.10:g.29548950A>G
Protein change:
Y575C
Links:
dbSNP: rs1057518904
NCBI 1000 Genomes Browser:
rs1057518904
Molecular consequence:
  • NM_000267.3:c.1721+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042492.2:c.1721+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042492.3:c.1721+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128147.3:c.1724A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurofibromatosis type 6 (NF6)
Synonyms:
Multiple cafe-au-lait spots
Identifiers:
MONDO: MONDO:0007245; MedGen: C1861975; Orphanet: 2678; OMIM: 114030; Human Phenotype Ontology: HP:0007565
Name:
Neurofibroma
Synonyms:
Neurofibromas
Identifiers:
MONDO: MONDO:0016755; MeSH: D009455; MedGen: C0027830; Human Phenotype Ontology: HP:0001067

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492873Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Dec 1, 2014)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492873.1

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

Last Updated: Nov 20, 2021

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