NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Jun 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716521.1

Allele description [Variation Report for NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln)]

NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln)

Gene:
FOXP2:forkhead box P2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln)
HGVS:
  • NC_000007.14:g.114631527GCA[9]
  • NG_007491.3:g.550218GCA[9]
  • NC_000007.13:g.114271582GCA[9]
  • NM_014491.3:c.618_620dup
  • NM_014491.3:c.618_620dupGCA
Links:
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847362Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 11, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

FOXP2: novel exons, splice variants, and CAG repeat length stability.

Bruce HA, Margolis RL.

Hum Genet. 2002 Aug;111(2):136-44. Epub 2002 Jul 16.

PubMed [citation]
PMID:
12189486

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.

Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, Rouleau GA.

Am J Med Genet A. 2003 Apr 15;118A(2):172-5.

PubMed [citation]
PMID:
12655497

Details of each submission

From Ambry Genetics, SCV000847362.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

In silico models in agreement (benign);No disease association in small case-control study;Other data supporting benign classification;Subpopulation frequency in support of benign classification

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

Last Updated: Dec 4, 2021

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