NM_000268.4(NF2):c.274G>A (p.Val92Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003363088.2

Allele description [Variation Report for NM_000268.4(NF2):c.274G>A (p.Val92Ile)]

NM_000268.4(NF2):c.274G>A (p.Val92Ile)

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.274G>A (p.Val92Ile)

HGVS:

NC_000022.11:g.29639123G>A
NG_009057.1:g.40568G>A
NM_000268.4:c.274G>AMANE SELECT
NM_016418.5:c.274G>A
NM_181825.3:c.274G>A
NM_181828.3:c.148G>A
NM_181829.3:c.240+2247G>A
NM_181830.3:c.115-3079G>A
NM_181831.3:c.115-3079G>A
NM_181832.3:c.274G>A
NM_181833.3:c.274G>A
NP_000259.1:p.Val92Ile
NP_057502.2:p.Val92Ile
NP_861546.1:p.Val92Ile
NP_861966.1:p.Val50Ile
NP_861970.1:p.Val92Ile
NP_861971.1:p.Val92Ile
LRG_511t1:c.274G>A
LRG_511t2:c.274G>A
LRG_511:g.40568G>A
LRG_511p2:p.Val92Ile
NC_000022.10:g.30035112G>A
NM_000268.3:c.274G>A
NR_156186.2:n.756G>A

Protein change:

V50I

Links:

dbSNP: rs145935225

NCBI 1000 Genomes Browser:

rs145935225

Molecular consequence:

NM_181829.3:c.240+2247G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_181830.3:c.115-3079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_181831.3:c.115-3079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000268.4:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016418.5:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181825.3:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181828.3:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181832.3:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181833.3:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_156186.2:n.756G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004084233	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004084233

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 6, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004084233.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.V92I variant (also known as c.274G>A), located in coding exon 3 of the NF2 gene, results from a G to A substitution at nucleotide position 274. The valine at codon 92 is replaced by isoleucine, an amino acid with highly 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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