NM_000268.4(NF2):c.1385G>A (p.Arg462His) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: May 16, 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.1385G>A (p.Arg462His)]

NM_000268.4(NF2):c.1385G>A (p.Arg462His)

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.1385G>A (p.Arg462His)
  • NC_000022.11:g.29674880G>A
  • NG_009057.1:g.76325G>A
  • NM_000268.3:c.1385G>A
  • NM_000268.4:c.1385G>AMANE SELECT
  • NM_016418.5:c.1385G>A
  • NM_181825.3:c.1385G>A
  • NM_181828.3:c.1259G>A
  • NM_181829.3:c.1262G>A
  • NM_181830.3:c.1136G>A
  • NM_181831.3:c.1136G>A
  • NM_181832.3:c.1385G>A
  • NM_181833.3:c.448-19872G>A
  • NP_000259.1:p.Arg462His
  • NP_000259.1:p.Arg462His
  • NP_057502.2:p.Arg462His
  • NP_861546.1:p.Arg462His
  • NP_861966.1:p.Arg420His
  • NP_861967.1:p.Arg421His
  • NP_861968.1:p.Arg379His
  • NP_861969.1:p.Arg379His
  • NP_861970.1:p.Arg462His
  • LRG_511t1:c.1385G>A
  • LRG_511t2:c.1385G>A
  • LRG_511:g.76325G>A
  • LRG_511p1:p.Arg462His
  • LRG_511p2:p.Arg462His
  • NC_000022.10:g.30070869G>A
  • NR_156186.2:n.1867G>A
Protein change:
dbSNP: rs373650983
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_181833.3:c.448-19872G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000268.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000268.4:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016418.5:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181825.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181828.3:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181829.3:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181830.3:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181831.3:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181832.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_156186.2:n.1867G>A - 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)
SCV001171577Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 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, SCV001171577.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided


The p.R462H variant (also known as c.1385G>A), located in coding exon 13 of the NF2 gene, results from a G to A substitution at nucleotide position 1385. The arginine at codon 462 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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: Nov 27, 2021

Support Center