NM_032682.5(FOXP1):c.1348+1G>C AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Oct 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000714977.1

Allele description [Variation Report for NM_032682.5(FOXP1):c.1348+1G>C]

NM_032682.5(FOXP1):c.1348+1G>C

Gene:
FOXP1:forkhead box P1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_032682.5(FOXP1):c.1348+1G>C
HGVS:
  • NC_000003.12:g.70977827C>G
  • NG_028243.1:g.611163G>C
  • NM_001244808.2:c.1348+1G>C
  • NM_001244810.1:c.1348+1G>C
  • NM_001244812.2:c.1120+1G>C
  • NM_001244813.2:c.1048+1G>C
  • NM_001244814.2:c.1348+1G>C
  • NM_001244815.2:c.1048+1G>C
  • NM_001244816.1:c.1348+1G>C
  • NM_001349337.2:c.1045+1G>C
  • NM_001349338.2:c.1348+1G>C
  • NM_001349340.2:c.1348+1G>C
  • NM_001349341.2:c.1345+1G>C
  • NM_001349342.2:c.1048+1G>C
  • NM_001349343.2:c.1045+1G>C
  • NM_001349344.2:c.1045+1G>C
  • NM_001370548.1:c.1048+1G>C
  • NM_032682.5:c.1348+1G>C
  • FOXP1:c.1348+1G>C
  • NC_000003.11:g.71026978C>G
Links:
dbSNP: rs1559619762
NCBI 1000 Genomes Browser:
rs1559619762
Molecular consequence:
  • NM_001244808.2:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244810.1:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244812.2:c.1120+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244813.2:c.1048+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244814.2:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244815.2:c.1048+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001244816.1:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349337.2:c.1045+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349338.2:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349340.2:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349341.2:c.1345+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349342.2:c.1048+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349343.2:c.1045+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349344.2:c.1045+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370548.1:c.1048+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_032682.5:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]
Observations:
1

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000844955Laboratoire de Genetique Biologique, CHU de Poitierscriteria provided, single submitter
Pathogenic
(Oct 15, 2018)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratoire de Genetique Biologique, CHU de Poitiers, SCV000844955.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

de novo; characteristic dysmorphology

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 24, 2021

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