NM_001349338.3(FOXP1):c.1348+1G>C AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 15, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000714977.2

Allele description [Variation Report for NM_001349338.3(FOXP1):c.1348+1G>C]

NM_001349338.3(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_001349338.3(FOXP1):c.1348+1G>C

Other names:

FOXP1:c.1348+1G>C

HGVS:

NC_000003.12:g.70977827C>G
NG_028243.1:g.611163G>C
NM_001244808.3:c.1348+1G>C
NM_001244810.2:c.1348+1G>C
NM_001244812.3:c.1120+1G>C
NM_001244813.3:c.1048+1G>C
NM_001244814.3:c.1348+1G>C
NM_001244815.2:c.1048+1G>C
NM_001244816.2:c.1348+1G>C
NM_001349337.2:c.1045+1G>C
NM_001349338.3:c.1348+1G>CMANE SELECT
NM_001349340.3:c.1348+1G>C
NM_001349341.3:c.1345+1G>C
NM_001349342.3:c.1048+1G>C
NM_001349343.3:c.1045+1G>C
NM_001349344.3:c.1045+1G>C
NM_001370548.1:c.1048+1G>C
NM_032682.6:c.1348+1G>C
NC_000003.11:g.71026978C>G

Links:

dbSNP: rs1559619762

NCBI 1000 Genomes Browser:

rs1559619762

Molecular consequence:

NM_001244808.3:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001244810.2:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001244812.3:c.1120+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001244813.3:c.1048+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001244814.3: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_001244816.2: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_001349338.3:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001349340.3:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001349341.3:c.1345+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001349342.3:c.1048+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001349343.3:c.1045+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001349344.3: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_032682.6:c.1348+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

Observations:

Condition(s)

Name:: Autism (AUTS)
Synonyms:: Autistic disorder; Autistic disorder of childhood onset
Identifiers:: MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000844955	Laboratoire de Genetique Biologique, CHU de Poitiers	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 15, 2018)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000844955

Laboratoire de Genetique Biologique, CHU de Poitiers

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 15, 2018)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

Description

de novo; characteristic dysmorphology

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 30, 2023

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