NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Nov 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000129502.3

Allele description [Variation Report for NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)]

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

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.7910G>A (p.Arg2637Gln)
HGVS:
  • NC_000017.11:g.31357309G>A
  • NG_009018.1:g.267333G>A
  • NM_000267.3:c.7847G>A
  • NM_001042492.2:c.7910G>A
  • NM_001042492.3:c.7910G>AMANE SELECT
  • NP_000258.1:p.Arg2616Gln
  • NP_001035957.1:p.Arg2637Gln
  • NP_001035957.1:p.Arg2637Gln
  • LRG_214t1:c.7847G>A
  • LRG_214t2:c.7910G>A
  • LRG_214:g.267333G>A
  • LRG_214p1:p.Arg2616Gln
  • LRG_214p2:p.Arg2637Gln
  • NC_000017.10:g.29684327G>A
  • p.R2637Q
Protein change:
R2616Q
Links:
dbSNP: rs560262404
NCBI 1000 Genomes Browser:
rs560262404
Molecular consequence:
  • NM_000267.3:c.7847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.2:c.7910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.7910G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000184274Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 6, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B.

Mol Psychiatry. 2014 Jul;19(7):784-90. doi: 10.1038/mp.2013.106. Epub 2013 Sep 3.

PubMed [citation]
PMID:
23999528

Details of each submission

From Ambry Genetics, SCV000184274.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

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 at codon 2637 is replaced by glutamine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.004% (greater than 110000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of p.R2637Q remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2021

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