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NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Oct 31, 2018
Accession:
VCV000428948.2
Variation ID:
428948
Description:
single nucleotide variant
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NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter)

Allele ID
420826
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q11.2
Genomic location
17: 31340553 (GRCh38) GRCh38 UCSC
17: 29667571 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.31340553C>T
NC_000017.10:g.29667571C>T
NM_000267.3:c.6907C>T NP_000258.1:p.Gln2303Ter nonsense
... more HGVS
Protein change
Q2303*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA399014940
dbSNP: rs1131691073
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 27, 2014 RCV000492525.1
Pathogenic 1 criteria provided, single submitter Nov 28, 2016 RCV000657644.1
Pathogenic 1 criteria provided, single submitter Oct 31, 2018 RCV000763394.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4656 4812

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 27, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581247.2
Submitted: (Nov 14, 2017)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894108.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Nov 28, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779390.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted NF1 c.6907C>T at the cDNA level and p.Gln2303Ter (Q2303X) at the protein level. The substitution creates a nonsense variant, which changes ... (more)

Citations for this variant

Title Author Journal Year Link
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
A highly sensitive genetic protocol to detect NF1 mutations. Valero MC The Journal of molecular diagnostics : JMD 2011 PMID: 21354044

Record last updated Jan 13, 2020