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NM_001042492.3(NF1):c.6315C>T (p.His2105=) AND Neurofibromatosis, familial spinal

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003316055.1

Allele description [Variation Report for NM_001042492.3(NF1):c.6315C>T (p.His2105=)]

NM_001042492.3(NF1):c.6315C>T (p.His2105=)

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.6315C>T (p.His2105=)
HGVS:
  • NC_000017.11:g.31336802C>T
  • NG_009018.1:g.246826C>T
  • NM_000267.3:c.6252C>T
  • NM_001042492.3:c.6315C>TMANE SELECT
  • NP_000258.1:p.His2084=
  • NP_001035957.1:p.His2105=
  • NP_001035957.1:p.His2105=
  • LRG_214t1:c.6252C>T
  • LRG_214t2:c.6315C>T
  • LRG_214:g.246826C>T
  • LRG_214p1:p.His2084=
  • LRG_214p2:p.His2105=
  • NC_000017.10:g.29663820C>T
  • NM_001042492.2:c.6315C>T
  • NM_001042492.3:c.6315C>T
  • p.H2105H
Links:
dbSNP: rs145732909
NCBI 1000 Genomes Browser:
rs145732909
Molecular consequence:
  • NM_000267.3:c.6252C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.6315C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Neurofibromatosis, familial spinal (FSNF)
Identifiers:
MONDO: MONDO:0008078; MedGen: C1834235; Orphanet: 636; OMIM: 162210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004016437KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016437.1

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

Last Updated: Oct 20, 2024