VCV000242972.1 - ClinVar

NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv

Variation ID: 242972 Accession: VCV000242972.1

Type and length

Inversion, 93,602,563 bp

Location

Cytogenetic: 7p15.3-q31.1 7: 20954043-114556605 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jul 11, 2016	Jul 11, 2016	Mar 2, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv

Protein change

Other names

7q31 (28 Kb) Pericentromeric inversion

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
AUTS2		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	1040	1109
ELN		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	839	1159
GLI3		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	1157	1186
KMT2E		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	931	963
SGCE		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	67	661
CDK13		Some evidence for dosage pathogenicity	Not yet evaluated	GRCh38 GRCh37	711	836
CAMK2B		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	720	749
FOXP2		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	373	410
SEMA3A		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	332	364
TBX20		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	561	582

There are 496 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Childhood apraxia of speech	Pathogenic (1)	no assertion criteria provided	Mar 2, 2016	RCV000234948.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Mar 02, 2016)	no assertion criteria provided Method: literature only	Childhood apraxia of speech Affected status: yes Allele origin: germline	GeneReviews Accession: SCV000292289.1 First in ClinVar: Jul 11, 2016 Last updated: Jul 11, 2016 Comment: Pericentromeric inversion involving 7q31.1	Publications: PubMed (2) PubMed: 26300977‚ 26060509 Other databases http://www.ncbi.nlm.nih.gov/book… http://www.ncbi.nlm.nih.gov/books/NBK368474/ Comment: Speech: Substitution, omission, mistiming of single articulations in a sequence Language: Specific language impairment Cognition: Normal-low range Other: Impulsive behavior, sleep disturbance, obsessive compulsive symptoms, … (more) Speech: Substitution, omission, mistiming of single articulations in a sequence Language: Specific language impairment Cognition: Normal-low range Other: Impulsive behavior, sleep disturbance, obsessive compulsive symptoms, auditory hallucinations (all ceased following medication) (less) Number of individuals with the variant: 1 Sex: female

Comment:

Speech: Substitution, omission, mistiming of single articulations in a sequence Language: Specific language impairment Cognition: Normal-low range Other: Impulsive behavior, sleep disturbance, obsessive compulsive symptoms, auditory hallucinations (all ceased following medication)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
FOXP2-Related Speech and Language Disorder.	Adam MP	-	2023	PMID: 27336128
A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer.	Becker M	Molecular cytogenetics	2015	PMID: 26300977
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2.	Moralli D	Molecular cytogenetics	2015	PMID: 26060509

Text-mined citations for this variant ...

Record last updated Mar 26, 2023

ClinVar Genomic variation as it relates to human health

NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...