NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001591052.26

Allele description [Variation Report for NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)]

NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)

HGVS:

NC_000017.11:g.31338788C>T
NG_009018.1:g.248812C>T
NM_000267.3:c.6841C>T
NM_001042492.3:c.6904C>TMANE SELECT
NP_000258.1:p.Gln2281Ter
NP_001035957.1:p.Gln2302Ter
NP_001035957.1:p.Gln2302Ter
LRG_214t1:c.6841C>T
LRG_214t2:c.6904C>T
LRG_214:g.248812C>T
LRG_214p1:p.Gln2281Ter
LRG_214p2:p.Gln2302Ter
NC_000017.10:g.29665806C>T
NM_001042492.2:c.6904C>T
NM_001042492.3:c.6904C>T

Protein change:

Q2281*

Links:

dbSNP: rs1057518807

NCBI 1000 Genomes Browser:

rs1057518807

Molecular consequence:

NM_000267.3:c.6841C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001042492.3:c.6904C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001826699	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 7, 2022)	germline	clinical testing	Citation Link,
SCV002563402	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jul 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001826699

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 7, 2022)

germline

clinical testing

Citation Link,

SCV002563402

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Jul 1, 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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001826699.3

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.6904 C>T (Q2302X); This variant is associated with the following publications: (PMID: 26206283, 25525159, 27074763, 10543400, 16944271, 23913538, 25325900, 30968598, 8837715)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002563402.16

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

Description

NF1: PVS1, PM2, PS4:Moderate, PP4, PS3:Supporting

#	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		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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