NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) AND CFTR-related disorder

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 19, 2025
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:: RCV004734591.2

Allele description [Variation Report for NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)]

NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)

Other names:

[delta]F311

HGVS:

NC_000007.13:g.117180219_117180221delTCT
NC_000007.14:g.117540159TCT[2]
NG_016465.4:g.79376TCT[2]
NM_000492.4:c.929TCT[2]MANE SELECT
NP_000483.3:p.Phe312del
LRG_663t1:c.935_937del
LRG_663:g.79376TCT[2]
NC_000007.13:g.117180211_117180213del
NC_000007.13:g.117180213TCT[2]
NC_000007.13:g.117180219_117180221del
NC_000007.13:g.117180219_117180221delTCT
NC_000007.14:g.117540165_117540167del
NM_000492.3:c.933_935delCTT
NM_000492.3:c.935_937delTCT
NM_000492.4:c.935_937delMANE SELECT

Protein change:

F312del

Links:

dbSNP: rs121908768

Molecular consequence:

NM_000492.4:c.929TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: CFTR-related disorder (CFTR-RD)
Synonyms:: CFTR-related disorders; CFTR-related condition
Identifiers:: MONDO: MONDO:7770004; MedGen: C5924204

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005362944	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jun 27, 2024)	germline	clinical testing
SCV007537075	Natera, Inc.	criteria provided, single submitter (Natera Variant Classification Schema (03/2026))	Pathogenic (Aug 19, 2025)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 37477516, 35313924, 7509232, 26574590, 9443874, 16980811, 32630227 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005362944

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jun 27, 2024)

germline

clinical testing

SCV007537075

Natera, Inc.

criteria provided, single submitter

(Natera Variant Classification Schema (03/2026))

Pathogenic
(Aug 19, 2025)

germline

clinical testing

PubMed (7)
[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

Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis.

Xu C, Tang Y, Dong L, Shen Y.

Pediatr Pulmonol. 2023 Oct;58(10):2865-2870. doi: 10.1002/ppul.26601. Epub 2023 Jul 21.

PubMed [citation]

PMID:: 37477516

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q, Chen X, Zhang P, Yang L, Lu Y, Xiao F, Wu B, Wang H, Zhou W, Dong X.

Orphanet J Rare Dis. 2022 Mar 21;17(1):129. doi: 10.1186/s13023-022-02279-9.

PubMed [citation]

PMID:: 35313924
PMCID:: PMC8935702

See all PubMed Citations (7)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005362944.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The CFTR c.935_937delTCT variant is predicted to result in an in-frame deletion (p.Phe312del). This variant, also referred to as p.Phe311del, has previously been reported to be causative for cystic fibrosis (Friedman et al. 1998. PubMed ID: 9443874; Bobadilla et al. 2002. PubMed ID: 12007216; Kammesheidt et al. 2006. PubMed ID: 16980811; Kay et al. 2015. PubMed ID: 26098992; Schrijver et al. 2016. PubMed ID: 26708955). This variant is reported in 0.035% of alleles in individuals of Latino descent in gnomAD. This variant is interpreted as 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

From Natera, Inc., SCV007537075.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

The c.935_937delTCT variant in CFTR is an in-frame deletion predicted to remove phenylalanine at amino acid 312 while preserving the reading frame. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in at least one unaffected individual, with a zygosity that is consistent with the inheritance pattern for the associated condition (in gnomAD and/or literature). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 37477516, 35313924, 7509232, 26574590, 9443874, 16980811, 32630227). Computational prediction algorithms indicate this variant is likely to affect gene or protein function. Given the available evidence, this variant is classified as 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: Jul 19, 2026

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