NM_001349338.3(FOXP1):c.1710_1722+2del AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000734311.1

Allele description [Variation Report for NM_001349338.3(FOXP1):c.1710_1722+2del]

NM_001349338.3(FOXP1):c.1710_1722+2del

Gene:
FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001349338.3(FOXP1):c.1710_1722+2del
HGVS:
  • NC_000003.12:g.70970734_70970748del
  • NG_028243.1:g.618242_618256del
  • NM_001244808.3:c.1707_1719+2del
  • NM_001244810.2:c.1758_1770+2del
  • NM_001244812.3:c.1482_1494+2del
  • NM_001244813.3:c.1410_1422+2del
  • NM_001244814.3:c.1710_1722+2del
  • NM_001244815.2:c.1410_1422+2del
  • NM_001244816.2:c.1710_1722+2del
  • NM_001349337.2:c.1407_1419+2del
  • NM_001349338.3:c.1710_1722+2delMANE SELECT
  • NM_001349340.3:c.1710_1722+2del
  • NM_001349341.3:c.1707_1719+2del
  • NM_001349342.3:c.1410_1422+2del
  • NM_001349343.3:c.1407_1419+2del
  • NM_001349344.3:c.1407_1419+2del
  • NM_001370548.1:c.1407_1419+2del
  • NM_032682.6:c.1710_1722+2del
  • NC_000003.11:g.71019885_71019899del
Links:
dbSNP: rs1559596230
NCBI 1000 Genomes Browser:
rs1559596230
Molecular consequence:
  • NM_001244808.3:c.1707_1719+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244810.2:c.1758_1770+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244812.3:c.1482_1494+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244813.3:c.1410_1422+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244814.3:c.1710_1722+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244815.2:c.1410_1422+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244816.2:c.1710_1722+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349337.2:c.1407_1419+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349338.3:c.1710_1722+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349340.3:c.1710_1722+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349341.3:c.1707_1719+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349342.3:c.1410_1422+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349343.3:c.1407_1419+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349344.3:c.1407_1419+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370548.1:c.1407_1419+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_032682.6:c.1710_1722+2del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000862442EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Jul 26, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000862442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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