NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Nov 21, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001011729.1

Allele description [Variation Report for NM_000268.4(NF2):c.1469C>T (p.Pro490Leu)]

NM_000268.4(NF2):c.1469C>T (p.Pro490Leu)

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.1469C>T (p.Pro490Leu)
HGVS:
  • NC_000022.11:g.29678218C>T
  • NG_009057.1:g.79663C>T
  • NM_000268.3:c.1469C>T
  • NM_000268.4:c.1469C>TMANE SELECT
  • NM_016418.5:c.1469C>T
  • NM_181825.3:c.1469C>T
  • NM_181828.3:c.1343C>T
  • NM_181829.3:c.1346C>T
  • NM_181830.3:c.1220C>T
  • NM_181831.3:c.1220C>T
  • NM_181832.3:c.1469C>T
  • NM_181833.3:c.448-16534C>T
  • NP_000259.1:p.Pro490Leu
  • NP_000259.1:p.Pro490Leu
  • NP_057502.2:p.Pro490Leu
  • NP_861546.1:p.Pro490Leu
  • NP_861966.1:p.Pro448Leu
  • NP_861967.1:p.Pro449Leu
  • NP_861968.1:p.Pro407Leu
  • NP_861969.1:p.Pro407Leu
  • NP_861970.1:p.Pro490Leu
  • LRG_511t1:c.1469C>T
  • LRG_511t2:c.1469C>T
  • LRG_511:g.79663C>T
  • LRG_511p1:p.Pro490Leu
  • LRG_511p2:p.Pro490Leu
  • NC_000022.10:g.30074207C>T
  • NR_156186.2:n.1951C>T
Protein change:
P407L
Links:
dbSNP: rs765100922
NCBI 1000 Genomes Browser:
rs765100922
Molecular consequence:
  • NM_181833.3:c.448-16534C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1343C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1951C>T - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001172086Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 21, 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, SCV001172086.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.P490L variant (also known as c.1469C>T), located in coding exon 14 of the NF2 gene, results from a C to T substitution at nucleotide position 1469. The proline at codon 490 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 30, 2021

Support Center