U.S. flag

An official website of the United States government

NM_001349338.3(FOXP1):c.930G>A (p.Trp310Ter) AND Intellectual disability-severe speech delay-mild dysmorphism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003324621.4

Allele description [Variation Report for NM_001349338.3(FOXP1):c.930G>A (p.Trp310Ter)]

NM_001349338.3(FOXP1):c.930G>A (p.Trp310Ter)

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.930G>A (p.Trp310Ter)
HGVS:
  • NC_000003.12:g.71015593C>T
  • NG_028243.1:g.573397G>A
  • NM_001244808.3:c.930G>A
  • NM_001244810.2:c.930G>A
  • NM_001244812.3:c.702G>A
  • NM_001244813.3:c.630G>A
  • NM_001244814.3:c.930G>A
  • NM_001244815.2:c.630G>A
  • NM_001244816.2:c.930G>A
  • NM_001349337.2:c.627G>A
  • NM_001349338.3:c.930G>AMANE SELECT
  • NM_001349339.1:c.930G>A
  • NM_001349340.3:c.930G>A
  • NM_001349341.3:c.927G>A
  • NM_001349342.3:c.630G>A
  • NM_001349343.3:c.627G>A
  • NM_001349344.3:c.627G>A
  • NM_001370548.1:c.630G>A
  • NM_032682.6:c.930G>A
  • NP_001231737.1:p.Trp310Ter
  • NP_001231739.1:p.Trp310Ter
  • NP_001231741.1:p.Trp234Ter
  • NP_001231742.1:p.Trp210Ter
  • NP_001231743.1:p.Trp310Ter
  • NP_001231744.2:p.Trp210Ter
  • NP_001231745.1:p.Trp310Ter
  • NP_001336266.2:p.Trp209Ter
  • NP_001336267.1:p.Trp310Ter
  • NP_001336268.1:p.Trp310Ter
  • NP_001336269.1:p.Trp310Ter
  • NP_001336270.1:p.Trp309Ter
  • NP_001336271.1:p.Trp210Ter
  • NP_001336272.1:p.Trp209Ter
  • NP_001336273.1:p.Trp209Ter
  • NP_001357477.1:p.Trp210Ter
  • NP_116071.2:p.Trp310Ter
  • NC_000003.11:g.71064744C>T
  • NR_146142.3:n.1534G>A
  • NR_146143.3:n.1531G>A
Protein change:
W209*
Molecular consequence:
  • NR_146142.3:n.1534G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146143.3:n.1531G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001244808.3:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244810.2:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244812.3:c.702G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244813.3:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244814.3:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244815.2:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244816.2:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349337.2:c.627G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349338.3:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349339.1:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349340.3:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349341.3:c.927G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349342.3:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349343.3:c.627G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349344.3:c.627G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370548.1:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032682.6:c.930G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Intellectual disability-severe speech delay-mild dysmorphism syndrome (IDDLA)
Synonyms:
Mental retardation with language impairment and autistic features; Intellectual developmental disorder with language impairment AND with or without autistic features
Identifiers:
MONDO: MONDO:0013352; MedGen: C4013764; Orphanet: 391372; OMIM: 613670

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004030198MVZ Medizinische Genetik Mainz
no assertion criteria provided
Pathogenic
(Aug 9, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004030198.2

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

Last Updated: Dec 7, 2024