NM_000268.4(NF2):c.1270C>A (p.Arg424Ser) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001010652.1

Allele description [Variation Report for NM_000268.4(NF2):c.1270C>A (p.Arg424Ser)]

NM_000268.4(NF2):c.1270C>A (p.Arg424Ser)

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser)
HGVS:
  • NC_000022.11:g.29673416C>A
  • NG_009057.1:g.74861C>A
  • NM_000268.3:c.1270C>A
  • NM_000268.4:c.1270C>AMANE SELECT
  • NM_016418.5:c.1270C>A
  • NM_181825.3:c.1270C>A
  • NM_181828.3:c.1144C>A
  • NM_181829.3:c.1147C>A
  • NM_181830.3:c.1021C>A
  • NM_181831.3:c.1021C>A
  • NM_181832.3:c.1270C>A
  • NM_181833.3:c.448-21336C>A
  • NP_000259.1:p.Arg424Ser
  • NP_000259.1:p.Arg424Ser
  • NP_057502.2:p.Arg424Ser
  • NP_861546.1:p.Arg424Ser
  • NP_861966.1:p.Arg382Ser
  • NP_861967.1:p.Arg383Ser
  • NP_861968.1:p.Arg341Ser
  • NP_861969.1:p.Arg341Ser
  • NP_861970.1:p.Arg424Ser
  • LRG_511t1:c.1270C>A
  • LRG_511t2:c.1270C>A
  • LRG_511:g.74861C>A
  • LRG_511p1:p.Arg424Ser
  • LRG_511p2:p.Arg424Ser
  • NC_000022.10:g.30069405C>A
  • NR_156186.2:n.1752C>A
Protein change:
R341S
Links:
dbSNP: rs763826793
NCBI 1000 Genomes Browser:
rs763826793
Molecular consequence:
  • NM_181833.3:c.448-21336C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1144C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1752C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001170882Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 16, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001170882.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R424S variant (also known as c.1270C>A), located in coding exon 12 of the NF2 gene, results from a C to A substitution at nucleotide position 1270. The arginine at codon 424 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

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