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NM_001042492.3(NF1):c.7171del (p.Val2391fs) AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001353260.1

Allele description [Variation Report for NM_001042492.3(NF1):c.7171del (p.Val2391fs)]

NM_001042492.3(NF1):c.7171del (p.Val2391fs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.7171del (p.Val2391fs)
HGVS:
  • NC_000017.11:g.31343117del
  • NG_009018.1:g.253141del
  • NM_000267.3:c.7108del
  • NM_001042492.3:c.7171delMANE SELECT
  • NP_000258.1:p.Val2370fs
  • NP_001035957.1:p.Val2391fs
  • LRG_214t1:c.7108del
  • LRG_214:g.253141del
  • LRG_214p1:p.Val2370fs
  • NC_000017.10:g.29670135del
  • NM_000267.3:c.7108delG
  • NM_001042492.3:c.7170delGMANE SELECT
Protein change:
V2370fs
Links:
dbSNP: rs2151565274
NCBI 1000 Genomes Browser:
rs2151565274
Molecular consequence:
  • NM_000267.3:c.7108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042492.3:c.7171del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neurofibromatosis, type 1 (NF1)
Synonyms:
NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001548476Laboratory of Medical Genetics, National & Kapodistrian University of Athens
no assertion criteria provided
Pathogenic
(Jan 1, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001548476.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024