NM_000268.4(NF2):c.1737+1420C>T AND Neurofibromatosis, type 2

Clinical significance:Uncertain significance (Last evaluated: May 27, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526821.1

Allele description [Variation Report for NM_000268.4(NF2):c.1737+1420C>T]

NM_000268.4(NF2):c.1737+1420C>T

Gene:
NF2:neurofibromin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1737+1420C>T
HGVS:
  • NC_000022.11:g.29683021C>T
  • NG_009057.1:g.84466C>T
  • NM_000268.4:c.1737+1420C>TMANE SELECT
  • NM_016418.5:c.1739C>T
  • NM_181825.3:c.1739C>T
  • NM_181828.3:c.1613C>T
  • NM_181829.3:c.1616C>T
  • NM_181830.3:c.1490C>T
  • NM_181831.3:c.1490C>T
  • NM_181832.3:c.1739C>T
  • NM_181833.3:c.448-11731C>T
  • NP_057502.2:p.Pro580Leu
  • NP_861546.1:p.Pro580Leu
  • NP_861966.1:p.Pro538Leu
  • NP_861967.1:p.Pro539Leu
  • NP_861968.1:p.Pro497Leu
  • NP_861969.1:p.Pro497Leu
  • NP_861970.1:p.Pro580Leu
  • LRG_511t2:c.1739C>T
  • LRG_511:g.84466C>T
  • LRG_511p2:p.Pro580Leu
  • NC_000022.10:g.30079010C>T
Protein change:
P497L
Molecular consequence:
  • NM_000268.4:c.1737+1420C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181833.3:c.448-11731C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016418.5:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1616C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurofibromatosis, type 2 (NF2)
Synonyms:
NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737475St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Uncertain significance
(May 27, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV001737475.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The NF2 c.1739C>T (p.Pro580Leu) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant is located adjacent to the acceptor splice site of intron 15, however RNA studies suggest that the variant does not affect splicing (internal data). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 2. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met.

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

Last Updated: Jun 23, 2021

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