NM_000268.4(NF2):c.1232G>A (p.Arg411His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2018
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:: RCV000765629.2

Allele description [Variation Report for NM_000268.4(NF2):c.1232G>A (p.Arg411His)]

NM_000268.4(NF2):c.1232G>A (p.Arg411His)

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.1232G>A (p.Arg411His)

HGVS:

NC_000022.11:g.29673378G>A
NG_009057.1:g.74823G>A
NM_000268.4:c.1232G>AMANE SELECT
NM_016418.5:c.1232G>A
NM_181825.3:c.1232G>A
NM_181828.3:c.1106G>A
NM_181829.3:c.1109G>A
NM_181830.3:c.983G>A
NM_181831.3:c.983G>A
NM_181832.3:c.1232G>A
NM_181833.3:c.448-21374G>A
NP_000259.1:p.Arg411His
NP_000259.1:p.Arg411His
NP_057502.2:p.Arg411His
NP_861546.1:p.Arg411His
NP_861966.1:p.Arg369His
NP_861967.1:p.Arg370His
NP_861968.1:p.Arg328His
NP_861969.1:p.Arg328His
NP_861970.1:p.Arg411His
LRG_511t1:c.1232G>A
LRG_511t2:c.1232G>A
LRG_511:g.74823G>A
LRG_511p1:p.Arg411His
LRG_511p2:p.Arg411His
NC_000022.10:g.30069367G>A
NM_000268.3(NF2):c.1232G>A
NM_000268.3:c.1232G>A
NR_156186.2:n.1714G>A
p.Arg411His

Protein change:

R328H

Links:

dbSNP: rs201214090

NCBI 1000 Genomes Browser:

rs201214090

Molecular consequence:

NM_181833.3:c.448-21374G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000268.4:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016418.5:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181825.3:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181828.3:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181829.3:c.1109G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181830.3:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181831.3:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181832.3:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_156186.2:n.1714G>A - 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

Name:: Neurofibromatosis, type 2 (SWNV)
Synonyms:: NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000

Name:: Schwannomatosis 1 (SWN1)
Synonyms:: Neurilemmomatosis congenital cutaneous
Identifiers:: MONDO: MONDO:0024517; MedGen: C4048809; Orphanet: 93921; OMIM: 162091

Recent activity

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Homo sapiens ATPase H+ transporting V1 subunit D (ATP6V1D), mRNA
Homo sapiens ATPase H+ transporting V1 subunit D (ATP6V1D), mRNA
gi|1519312410|ref|NM_015994.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000896954	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 31, 2018)	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

SCV000896954

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 31, 2018)

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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000896954.1

#	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: Oct 8, 2024

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