NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) AND Hereditary pancreatitis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 17, 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:: RCV002256031.9

Allele description [Variation Report for NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)]

NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)

HGVS:

NC_000007.14:g.117592416C>T
NG_016465.4:g.131633C>T
NM_000492.4:c.2249C>TMANE SELECT
NP_000483.3:p.Pro750Leu
NP_000483.3:p.Pro750Leu
LRG_663t1:c.2249C>T
LRG_663:g.131633C>T
LRG_663p1:p.Pro750Leu
NC_000007.13:g.117232470C>T
NM_000492.3:c.2249C>T
NM_000492.4:c.2249C>T

Protein change:

P750L

Links:

dbSNP: rs140455771

Molecular consequence:

NM_000492.4:c.2249C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary pancreatitis (PCTT)
Synonyms:: Hereditary chronic pancreatitis; PRSS1-Related Hereditary Pancreatitis
Identifiers:: MONDO: MONDO:0008185; MedGen: C0238339; Orphanet: 676; OMIM: 167800

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002529689	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely pathogenic (Mar 17, 2021)	germline	curation	PubMed (9) [See all records that cite these PMIDs] 10798368, 28830496, 27728908, 23076339, 16189704, 17481968, 16963320, 22483971, 29805046 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002529689

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely pathogenic
(Mar 17, 2021)

germline

curation

PubMed (9)
[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	curation

Citations

PubMed

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).

Orozco L, Velázquez R, Zielenski J, Tsui LC, Chávez M, Lezana JL, Saldaña Y, Hernández E, Carnevale A.

Hum Genet. 2000 Mar;106(3):360-5.

PubMed [citation]

PMID:: 10798368

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

De Wachter E, Thomas M, Wanyama SS, Seneca S, Malfroot A.

Orphanet J Rare Dis. 2017 Aug 22;12(1):142. doi: 10.1186/s13023-017-0694-1.

PubMed [citation]

PMID:: 28830496
PMCID:: PMC5567473

See all PubMed Citations (9)

Details of each submission

From Sema4, Sema4, SCV002529689.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (9)

#	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

ClinVar

Relating variation to medicine