NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 13, 2021
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:: RCV001804780.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)]

NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)

HGVS:

NC_000007.14:g.117614616_117614618del
NG_016465.4:g.153833_153835del
NM_000492.4:c.3371_3373delMANE SELECT
NP_000483.3:p.Glu1124del
LRG_663:g.153833_153835del
NC_000007.13:g.117254670_117254672del
NM_000492.3:c.3371_3373delAAG

Protein change:

E1124del

Links:

dbSNP: rs397508548

NCBI 1000 Genomes Browser:

rs397508548

Molecular consequence:

NM_000492.4:c.3371_3373del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002051081	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Dec 13, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18687795, 23951356, 12422349 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002051081

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Dec 13, 2021)

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

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Audrezet MP, Dabricot A, Le Marechal C, Ferec C.

J Mol Diagn. 2008 Sep;10(5):424-34. doi: 10.2353/jmoldx.2008.080056. Epub 2008 Aug 7.

PubMed [citation]

PMID:: 18687795
PMCID:: PMC2518737

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C.

PLoS One. 2013;8(8):e73522. doi: 10.1371/journal.pone.0073522.

PubMed [citation]

PMID:: 23951356
PMCID:: PMC3738529

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002051081.1

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

Description

Variant summary: CFTR c.3371_3373delAAG (p.Glu1124del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant allele was found at a frequency of 8e-06 in 250910 control chromosomes (gnomAD). c.3371_3373delAAG has been reported in the literature in a homozygous individual affected with congenital bilateral absence of the vas deferens and chronic pancreatitis (Conway_2002). Furthermore, the variant was detected along with F508del in a compound heterozygous patient affected with idiopathic chronic pancreatitis (Masson_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

#	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: May 1, 2024

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