NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) AND Inborn genetic diseases

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 25, 2019
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:: RCV002336427.9

Allele description [Variation Report for NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)]

NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)

Gene:

FOXP2:forkhead box P2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.1

Genomic location:

Preferred name:

NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)

HGVS:

NC_000007.14:g.114426561A>T
NG_007491.3:g.345252A>T
NM_001172766.3:c.50A>T
NM_001172767.2:c.50A>T
NM_014491.4:c.50A>TMANE SELECT
NM_148898.4:c.50A>T
NM_148899.3:c.50A>T
NM_148900.4:c.50A>T
NP_001166237.1:p.Gln17Leu
NP_001166238.1:p.Gln17Leu
NP_055306.1:p.Gln17Leu
NP_683696.2:p.Gln17Leu
NP_683697.2:p.Gln17Leu
NP_683698.2:p.Gln17Leu
NC_000007.13:g.114066616A>T
NM_014491.3:c.50A>T
NR_033766.2:n.436A>T
NR_033767.2:n.606A>T

Protein change:

Q17L

Links:

dbSNP: rs201649896

NCBI 1000 Genomes Browser:

rs201649896

Molecular consequence:

NM_001172766.3:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001172767.2:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014491.4:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_148898.4:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_148899.3:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_148900.4:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_033766.2:n.436A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_033767.2:n.606A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002644615	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Mar 25, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15877281, 16984964, 27933109 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002644615

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Mar 25, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE.

Am J Hum Genet. 2005 Jun;76(6):1074-80. Epub 2005 Apr 22.

PubMed [citation]

PMID:: 15877281
PMCID:: PMC1196445

Functional genetic analysis of mutations implicated in a human speech and language disorder.

Vernes SC, Nicod J, Elahi FM, Coventry JA, Kenny N, Coupe AM, Bird LE, Davies KE, Fisher SE.

Hum Mol Genet. 2006 Nov 1;15(21):3154-67. Epub 2006 Sep 19.

PubMed [citation]

PMID:: 16984964

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002644615.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024

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