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NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000141130.7
Variation ID:
141130
Description:
single nucleotide variant
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NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)

Allele ID
150844
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q11.2
Genomic location
17: 31357309 (GRCh38) GRCh38 UCSC
17: 29684327 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.31357309G>A
NG_009018.1:g.267333G>A
NM_000267.3:c.7847G>A NP_000258.1:p.Arg2616Gln missense
... more HGVS
Protein change
R2616Q, R2637Q
Other names
-
Canonical SPDI
NC_000017.11:31357308:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
ClinGen: CA164550
dbSNP: rs560262404
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 6, 2015 RCV000129502.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 1, 2020 RCV000458322.6
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Apr 18, 2018 RCV000679416.4
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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
7841 8053

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 06, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184274.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Thep.R2637Qvariant (also known as c.7910G>A), located in coding exon 54 of theNF1gene, results from a G to A substitution at nucleotide position 7910. The arginine … (more)
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Phosphorus, Inc.
Accession: SCV000679830.1
Submitted: (Sep 27, 2017)
Evidence details
Uncertain significance
(Dec 11, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000806322.1
Submitted: (Jan 29, 2018)
Evidence details
Uncertain significance
(Apr 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000808670.1
Submitted: (Sep 14, 2018)
Evidence details
Comment:
This variant is denoted NF1 c.7847G>A at the cDNA level, p.Arg2616Gln (R2616Q) at the protein level, and results in the change of an Arginine to … (more)
Likely benign
(Jun 16, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884247.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The NF1 c.7910G>A; p.Arg2637Gln variant (rs560262404), also known as c.7847G>A; p.Arg2616Gln, has been reported in the literature in a patient who carries a pathogenic NF1 … (more)
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 1
Allele origin: germline
Invitae
Accession: SCV000554962.6
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Toma C Molecular psychiatry 2014 PMID: 23999528

Text-mined citations for rs560262404...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021