NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) AND Speech-language disorder 1

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000344182.2

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:

Condition(s)

Name:
Speech-language disorder 1 (SPCH1)
Synonyms:
DEVELOPMENTAL VERBAL DYSPRAXIA; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA; CHILDHOOD APRAXIA OF SPEECH
Identifiers:
MONDO: MONDO:0011184; MedGen: C0750927; Orphanet: 209908; OMIM: 602081

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000466339Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000466339.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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