NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Aug 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000623483.2

Allele description [Variation Report for NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)]

NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)

Gene:
FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
HGVS:
  • NC_000003.12:g.70972666C>T
  • NG_028243.1:g.616324G>A
  • NM_001244808.3:c.1538G>A
  • NM_001244810.2:c.1531-486G>A
  • NM_001244812.3:c.1313G>A
  • NM_001244813.3:c.1241G>A
  • NM_001244814.3:c.1541G>A
  • NM_001244815.2:c.1241G>A
  • NM_001244816.2:c.1541G>A
  • NM_001349337.2:c.1238G>A
  • NM_001349338.3:c.1541G>AMANE SELECT
  • NM_001349340.3:c.1541G>A
  • NM_001349341.3:c.1538G>A
  • NM_001349342.3:c.1241G>A
  • NM_001349343.3:c.1238G>A
  • NM_001349344.3:c.1238G>A
  • NM_001370548.1:c.1238G>A
  • NM_032682.5:c.1541G>A
  • NM_032682.6:c.1541G>A
  • NP_001231737.1:p.Arg513His
  • NP_001231741.1:p.Arg438His
  • NP_001231742.1:p.Arg414His
  • NP_001231743.1:p.Arg514His
  • NP_001231744.2:p.Arg414His
  • NP_001231745.1:p.Arg514His
  • NP_001336266.2:p.Arg413His
  • NP_001336267.1:p.Arg514His
  • NP_001336269.1:p.Arg514His
  • NP_001336270.1:p.Arg513His
  • NP_001336271.1:p.Arg414His
  • NP_001336272.1:p.Arg413His
  • NP_001336273.1:p.Arg413His
  • NP_001357477.1:p.Arg413His
  • NP_116071.2:p.Arg514His
  • NP_116071.2:p.Arg514His
  • NC_000003.11:g.71021817C>T
  • NR_146142.3:n.2057G>A
  • NR_146143.3:n.2054G>A
Protein change:
R413H
Links:
dbSNP: rs797045586
NCBI 1000 Genomes Browser:
rs797045586
Molecular consequence:
  • NM_001244810.2:c.1531-486G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001244808.3:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244812.3:c.1313G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244813.3:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244814.3:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244815.2:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244816.2:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349337.2:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349338.3:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349340.3:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349341.3:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349342.3:c.1241G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349343.3:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349344.3:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370548.1:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032682.5:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032682.6:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146142.3:n.2057G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146143.3:n.2054G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
variation affecting protein function [Variation Ontology: 0003]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742859Ambry Geneticscriteria provided, single submitter
Pathogenic
(Aug 30, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic/Mexicangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE.

Hum Mutat. 2017 Nov;38(11):1542-1554. doi: 10.1002/humu.23303. Epub 2017 Aug 14.

PubMed [citation]
PMID:
28741757

Details of each submission

From Ambry Genetics, SCV000742859.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic/Mexican1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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