NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) AND Hereditary cancer-predisposing syndrome

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000268.4(NF2):c.1502T>C (p.Ile501Thr)]

NM_000268.4(NF2):c.1502T>C (p.Ile501Thr)

NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr)
  • NC_000022.11:g.29678251T>C
  • NG_009057.1:g.79696T>C
  • NM_000268.3:c.1502T>C
  • NM_000268.4:c.1502T>CMANE SELECT
  • NM_016418.5:c.1502T>C
  • NM_181825.3:c.1502T>C
  • NM_181828.3:c.1376T>C
  • NM_181829.3:c.1379T>C
  • NM_181830.3:c.1253T>C
  • NM_181831.3:c.1253T>C
  • NM_181832.3:c.1502T>C
  • NM_181833.3:c.448-16501T>C
  • NP_000259.1:p.Ile501Thr
  • NP_000259.1:p.Ile501Thr
  • NP_057502.2:p.Ile501Thr
  • NP_861546.1:p.Ile501Thr
  • NP_861966.1:p.Ile459Thr
  • NP_861967.1:p.Ile460Thr
  • NP_861968.1:p.Ile418Thr
  • NP_861969.1:p.Ile418Thr
  • NP_861970.1:p.Ile501Thr
  • LRG_511t1:c.1502T>C
  • LRG_511t2:c.1502T>C
  • LRG_511:g.79696T>C
  • LRG_511p1:p.Ile501Thr
  • LRG_511p2:p.Ile501Thr
  • NC_000022.10:g.30074240T>C
  • NR_156186.2:n.1984T>C
Protein change:
dbSNP: rs767682136
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_181833.3:c.448-16501T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1376T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1379T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1253T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1253T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1984T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Hereditary cancer-predisposing syndrome
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
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)
SCV001172309Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jun 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, SCV001172309.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided


The p.I501T variant (also known as c.1502T>C), located in coding exon 14 of the NF2 gene, results from a T to C substitution at nucleotide position 1502. The isoleucine at codon 501 is replaced by threonine, 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.

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

Last Updated: Oct 30, 2021

Support Center