VCV000053905.2 - ClinVar

NM_000492.3(CFTR):c.413_415dup (p.Leu138dup)

Germline

Top reviewed classifications are shown here.

Submission summary:

2 submissions

2 submitters

0 conditions

Reviewed by expert panel

Pathogenic

Aug 2018 by CFTR2

for Cystic fibrosis

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000492.3(CFTR):c.413_415dup (p.Leu138dup)

Variation ID: 53905 Accession: VCV000053905.2

Type and length

Duplication, 3 bp

Location

Cytogenetic: 7q31.2 7: 117531036-117531037 (GRCh38) [ NCBI UCSC ] 7: 117171090-117171091 (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	Jan 25, 2018	Jun 17, 2019	Aug 31, 2018

HGVS

Nucleotide	Protein	Molecular consequence
NM_000492.3:c.413_415dup	NP_000483.3:p.Leu138dup	inframe insertion
NM_000492.3:c.413_415dupTAC		inframe insertion
NC_000007.14:g.117531038_117531040dup
NC_000007.13:g.117171092_117171094dup
NG_016465.4:g.70255_70257dup
LRG_663:g.70255_70257dup
LRG_663t1:c.413_415dup	LRG_663p1:p.Leu138dup

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000007.14:117531036:CTAC:CTACTAC

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

ClinGen: CA327427 dbSNP: rs397508686 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.
CFTR		-	-	GRCh38 GRCh37	3825	5200

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.
Cystic fibrosis	Pathogenic (2)	reviewed by expert panel	Aug 31, 2018	RCV000577362.2

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 (Aug 31, 2018)	reviewed by expert panel (Sosnay PR et al. (Nat Genet 2013)) Method: research	Cystic fibrosis Affected status: yes Allele origin: germline	CFTR2 Accession: SCV000924246.1 First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019	Other databases https://cftr2.org https://cftr2.org
not provided (-)	no classification provided Method: literature only	CFTR-related disorders Affected status: yes Allele origin: germline	ClinVar Staff, National Center for Biotechnology Information (NCBI) Accession: SCV000679461.1 First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018	Publications: PubMed (1) PubMed: 20059485

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.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?	Dorfman R	Clinical genetics	2010	PMID: 20059485
https://cftr2.org	-	-	-	-

Text-mined citations for rs397508686 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 09, 2021

ClinVar Genomic variation as it relates to human health

NM_000492.3(CFTR):c.413_415dup (p.Leu138dup)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs397508686 ...