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

Clinical significance:Pathogenic (Last evaluated: Apr 26, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001420209.1

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]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001622629Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Taulicriteria provided, single submitter
Pathogenic
(Apr 26, 2021)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622629.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PP5_very strong;PM1_moderate;PM2_supporting;PM5_moderate;PP2_supporting;PP3_supporting

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

Last Updated: Nov 20, 2021

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