NM_000268.4(NF2):c.7G>C (p.Gly3Arg) AND Familial meningioma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV003463182.1

Allele description [Variation Report for NM_000268.4(NF2):c.7G>C (p.Gly3Arg)]

NM_000268.4(NF2):c.7G>C (p.Gly3Arg)

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.7G>C (p.Gly3Arg)

HGVS:

NC_000022.11:g.29604005G>C
NG_009057.1:g.5450G>C
NG_201599.1:g.707G>C
NM_000268.4:c.7G>CMANE SELECT
NM_001407053.1:c.-224G>C
NM_001407054.1:c.7G>C
NM_001407055.1:c.7G>C
NM_001407056.1:c.-224G>C
NM_001407057.1:c.7G>C
NM_001407058.1:c.7G>C
NM_001407059.1:c.7G>C
NM_001407060.1:c.7G>C
NM_001407062.1:c.7G>C
NM_001407063.1:c.7G>C
NM_001407064.1:c.7G>C
NM_001407065.1:c.-634G>C
NM_001407066.1:c.7G>C
NM_001407067.1:c.-250G>C
NM_016418.5:c.7G>C
NM_181825.3:c.7G>C
NM_181828.3:c.7G>C
NM_181829.3:c.7G>C
NM_181830.3:c.7G>C
NM_181831.3:c.7G>C
NM_181832.3:c.7G>C
NM_181833.3:c.7G>C
NP_000259.1:p.Gly3Arg
NP_000259.1:p.Gly3Arg
NP_001393983.1:p.Gly3Arg
NP_001393984.1:p.Gly3Arg
NP_001393986.1:p.Gly3Arg
NP_001393987.1:p.Gly3Arg
NP_001393988.1:p.Gly3Arg
NP_001393989.1:p.Gly3Arg
NP_001393991.1:p.Gly3Arg
NP_001393992.1:p.Gly3Arg
NP_001393993.1:p.Gly3Arg
NP_001393995.1:p.Gly3Arg
NP_057502.2:p.Gly3Arg
NP_861546.1:p.Gly3Arg
NP_861966.1:p.Gly3Arg
NP_861967.1:p.Gly3Arg
NP_861968.1:p.Gly3Arg
NP_861969.1:p.Gly3Arg
NP_861970.1:p.Gly3Arg
NP_861971.1:p.Gly3Arg
LRG_511t1:c.7G>C
LRG_511t2:c.7G>C
LRG_511:g.5450G>C
LRG_511p1:p.Gly3Arg
LRG_511p2:p.Gly3Arg
NC_000022.10:g.29999994G>C
NM_000268.3:c.7G>C
NR_156186.2:n.373G>C
NR_176267.1:n.373G>C

Protein change:

G3R

Molecular consequence:

NM_001407053.1:c.-224G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407056.1:c.-224G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407065.1:c.-634G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407067.1:c.-250G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000268.4:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407054.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407055.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407057.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407058.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407059.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407060.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407062.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407063.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407064.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407066.1:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_016418.5:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181825.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181828.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181829.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181830.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181831.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181832.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181833.3:c.7G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_176267.1:n.373G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial meningioma
Synonyms:: Meningioma, familial, susceptibility to
Identifiers:: MONDO: MONDO:0011789; MedGen: C3551915; Orphanet: 263662; OMIM: 607174

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
SCV004199066	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 14, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004199066

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 14, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004199066.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	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