NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) AND Childhood apraxia of speech

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV000234933.16

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:: Childhood apraxia of speech (SPCH1)
Synonyms:: DEVELOPMENTAL VERBAL DYSPRAXIA; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA; Speech-language disorder 1
Identifiers:: MONDO: MONDO:0011184; MedGen: C0750927; Orphanet: 209908; OMIM: 602081

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292263	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15877281, 27336128
SCV000466329	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16984964, 15877281 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292263

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000466329

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[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, literature only

Citations

PubMed

Morgan A, Fisher SE, Scheffer I, Hildebrand M.

2016 Jun 23 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 27336128

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 GeneReviews, SCV000292263.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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

From Illumina Laboratory Services, Illumina, SCV000466329.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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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