NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 25, 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:: RCV003236856.1

Allele description [Variation Report for NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)]

NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)

Gene:

NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)

HGVS:

NC_000022.11:g.29639191ACA[1]
NC_000022.11:g.29639191_29639193ACA[1]
NG_009057.1:g.40636ACA[1]
NM_000268.3:c.345_347del
NM_000268.4:c.342ACA[1]MANE SELECT
NM_016418.5:c.342ACA[1]
NM_181825.3:c.342ACA[1]
NM_181828.3:c.216ACA[1]
NM_181829.3:c.240+2318_240+2320del
NM_181830.3:c.115-3008_115-3006del
NM_181831.3:c.115-3008_115-3006del
NM_181832.3:c.342ACA[1]
NM_181833.3:c.342ACA[1]
NP_000259.1:p.Gln115del
NP_057502.2:p.Gln115del
NP_861546.1:p.Gln115del
NP_861966.1:p.Gln73del
NP_861970.1:p.Gln115del
NP_861971.1:p.Gln115del
LRG_511t1:c.345_347del
LRG_511t2:c.342ACA[1]
LRG_511:g.40636ACA[1]
LRG_511p2:p.Gln115del
NC_000022.10:g.30035180ACA[1]
NC_000022.10:g.30035180_30035182del
NM_000268.3:c.345_347delACA
NR_156186.2:n.824ACA[1]

Protein change:

Q115del

Links:

dbSNP: rs1601583772

NCBI 1000 Genomes Browser:

rs1601583772

Molecular consequence:

NM_000268.4:c.342ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_016418.5:c.342ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_181825.3:c.342ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_181828.3:c.216ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_181832.3:c.342ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_181833.3:c.342ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_181829.3:c.240+2318_240+2320del - intron variant - [Sequence Ontology: SO:0001627]
NM_181830.3:c.115-3008_115-3006del - intron variant - [Sequence Ontology: SO:0001627]
NM_181831.3:c.115-3008_115-3006del - intron variant - [Sequence Ontology: SO:0001627]
NR_156186.2:n.824ACA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens G protein-coupled receptor class C group 5 member A (GPRC5A), mRNA
Homo sapiens G protein-coupled receptor class C group 5 member A (GPRC5A), mRNA
gi|1722698043|ref|NM_003979.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003935382	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935382

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 25, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003935382.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11756419, 16324214)

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

Last Updated: Sep 29, 2024

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