NM_000268.4(NF2):c.576C>A (p.Tyr192Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2021
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:: RCV002359628.1

Allele description [Variation Report for NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)]

NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)

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.576C>A (p.Tyr192Ter)

HGVS:

NC_000022.11:g.29655653C>A
NG_009057.1:g.57098C>A
NM_000268.4:c.576C>AMANE SELECT
NM_001407053.1:c.462C>A
NM_001407054.1:c.453C>A
NM_001407055.1:c.450C>A
NM_001407056.1:c.462C>A
NM_001407057.1:c.576C>A
NM_001407058.1:c.453C>A
NM_001407059.1:c.576C>A
NM_001407060.1:c.576C>A
NM_001407062.1:c.453C>A
NM_001407063.1:c.327C>A
NM_001407064.1:c.327C>A
NM_001407065.1:c.42C>A
NM_001407066.1:c.576C>A
NM_001407067.1:c.345C>A
NM_016418.5:c.576C>A
NM_181825.3:c.576C>A
NM_181828.3:c.450C>A
NM_181829.3:c.453C>A
NM_181830.3:c.327C>A
NM_181831.3:c.327C>A
NM_181832.3:c.576C>A
NM_181833.3:c.447+13368C>A
NP_000259.1:p.Tyr192Ter
NP_000259.1:p.Tyr192Ter
NP_001393982.1:p.Tyr154Ter
NP_001393983.1:p.Tyr151Ter
NP_001393984.1:p.Tyr150Ter
NP_001393985.1:p.Tyr154Ter
NP_001393986.1:p.Tyr192Ter
NP_001393987.1:p.Tyr151Ter
NP_001393988.1:p.Tyr192Ter
NP_001393989.1:p.Tyr192Ter
NP_001393991.1:p.Tyr151Ter
NP_001393992.1:p.Tyr109Ter
NP_001393993.1:p.Tyr109Ter
NP_001393994.1:p.Tyr14Ter
NP_001393995.1:p.Tyr192Ter
NP_001393996.1:p.Tyr115Ter
NP_057502.2:p.Tyr192Ter
NP_861546.1:p.Tyr192Ter
NP_861966.1:p.Tyr150Ter
NP_861967.1:p.Tyr151Ter
NP_861968.1:p.Tyr109Ter
NP_861969.1:p.Tyr109Ter
NP_861970.1:p.Tyr192Ter
LRG_511t1:c.576C>A
LRG_511t2:c.576C>A
LRG_511:g.57098C>A
LRG_511p1:p.Tyr192Ter
LRG_511p2:p.Tyr192Ter
NC_000022.10:g.30051642C>A
NM_000268.3:c.576C>A
NR_156186.2:n.1058C>A

Protein change:

Y109*

Molecular consequence:

NM_181833.3:c.447+13368C>A - intron variant - [Sequence Ontology: SO:0001627]
NR_156186.2:n.1058C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000268.4:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407053.1:c.462C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407054.1:c.453C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407055.1:c.450C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407056.1:c.462C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407057.1:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407058.1:c.453C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407059.1:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407060.1:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407062.1:c.453C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407063.1:c.327C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407064.1:c.327C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407065.1:c.42C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407066.1:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407067.1:c.345C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_016418.5:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181825.3:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181828.3:c.450C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181829.3:c.453C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181830.3:c.327C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181831.3:c.327C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181832.3:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV002653087	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Dec 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002653087

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Dec 1, 2021)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002653087.1

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

Description

The p.Y192* pathogenic mutation (also known as c.576C>A), located in coding exon 6 of the NF2 gene, results from a C to A substitution at nucleotide position 576. This changes the amino acid from a tyrosine to a stop codon within coding exon 6. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Dec 24, 2023

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