NM_000268.4(NF2):c.1138A>G (p.Thr380Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 29, 2022
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:: RCV002324396.2

Allele description [Variation Report for NM_000268.4(NF2):c.1138A>G (p.Thr380Ala)]

NM_000268.4(NF2):c.1138A>G (p.Thr380Ala)

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.1138A>G (p.Thr380Ala)

HGVS:

NC_000022.11:g.29673284A>G
NG_009057.1:g.74729A>G
NM_000268.4:c.1138A>GMANE SELECT
NM_016418.5:c.1138A>G
NM_181825.3:c.1138A>G
NM_181828.3:c.1012A>G
NM_181829.3:c.1015A>G
NM_181830.3:c.889A>G
NM_181831.3:c.889A>G
NM_181832.3:c.1138A>G
NM_181833.3:c.448-21468A>G
NP_000259.1:p.Thr380Ala
NP_057502.2:p.Thr380Ala
NP_861546.1:p.Thr380Ala
NP_861966.1:p.Thr338Ala
NP_861967.1:p.Thr339Ala
NP_861968.1:p.Thr297Ala
NP_861969.1:p.Thr297Ala
NP_861970.1:p.Thr380Ala
LRG_511t1:c.1138A>G
LRG_511t2:c.1138A>G
LRG_511:g.74729A>G
LRG_511p2:p.Thr380Ala
NC_000022.10:g.30069273A>G
NM_000268.3:c.1138A>G
NR_156186.2:n.1620A>G

Protein change:

T297A

Links:

dbSNP: rs1468789751

NCBI 1000 Genomes Browser:

rs1468789751

Molecular consequence:

NM_181833.3:c.448-21468A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000268.4:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016418.5:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181825.3:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181828.3:c.1012A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181829.3:c.1015A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181830.3:c.889A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181831.3:c.889A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181832.3:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_156186.2:n.1620A>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002606587	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002606587

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 29, 2022)

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, SCV002606587.2

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

Description

The p.T380A variant (also known as c.1138A>G), located in coding exon 12 of the NF2 gene, results from an A to G substitution at nucleotide position 1138. The threonine at codon 380 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024

ClinVar

Relating variation to medicine