NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) AND Hereditary pancreatitis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 22, 2020
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:: RCV002256032.2

Allele description [Variation Report for NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)]

NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)

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.2735C>A (p.Ser912Ter)

HGVS:

NC_000007.14:g.117603609C>A
NG_016465.4:g.142826C>A
NM_000492.4:c.2735C>AMANE SELECT
NP_000483.3:p.Ser912Ter
NP_000483.3:p.Ser912Ter
LRG_663t1:c.2735C>A
LRG_663:g.142826C>A
LRG_663p1:p.Ser912Ter
NC_000007.13:g.117243663C>A
NM_000492.3:c.2735C>A
p.Ser912X

Protein change:

S912*

Links:

dbSNP: rs121909034

NCBI 1000 Genomes Browser:

rs121909034

Molecular consequence:

NM_000492.4:c.2735C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002529702	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Pathogenic (Oct 22, 2020)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 25910067, 1695717 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002529702

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Pathogenic
(Oct 22, 2020)

germline

curation

PubMed (2)
[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

A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R.

Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229.

PubMed [citation]

PMID:: 25910067
PMCID:: PMC4503653

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr.

Nature. 1990 Jul 26;346(6282):366-9.

PubMed [citation]

PMID:: 1695717

Details of each submission

From Sema4, Sema4, SCV002529702.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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: Sep 29, 2024

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