NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) AND not specified

Clinical significance:Benign (Last evaluated: Oct 4, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000081646.4

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:
7

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000113577EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 4, 2013)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown7not providednot providednot providednot providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000113577.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided7not providednot providednot provided

Last Updated: Nov 20, 2021

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