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NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) AND Hereditary pancreatitis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 12, 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:
RCV002255994.9

Allele description [Variation Report for NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)]

NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)

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.3846G>A (p.Trp1282Ter)
HGVS:
  • NC_000007.14:g.117642566G>A
  • NG_016465.4:g.181783G>A
  • NM_000492.4:c.3846G>AMANE SELECT
  • NP_000483.3:p.Trp1282Ter
  • NP_000483.3:p.Trp1282Ter
  • LRG_663t1:c.3846G>A
  • LRG_663:g.181783G>A
  • LRG_663p1:p.Trp1282Ter
  • NC_000007.13:g.117282620G>A
  • NM_000492.3:c.3846G>A
  • NM_000492.4:c.3846G>A
  • p.Trp1282*
  • p.Trp1282X
Protein change:
W1282*; TRP1282TER
Links:
Genetic Testing Registry (GTR): GTR000074114; Genetic Testing Registry (GTR): GTR000500233; OMIM: 602421.0022; dbSNP: rs77010898
NCBI 1000 Genomes Browser:
rs77010898
Molecular consequence:
  • NM_000492.4:c.3846G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002529720Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Pathogenic
(May 12, 2021) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Petrova NV, Kashirskaya NY, Vasilyeva TA, Kondratyeva EI, Zhekaite EK, Voronkova AY, Sherman VD, Galkina VA, Ginter EK, Kutsev SI, Marakhonov AV, Zinchenko RA.

Genes (Basel). 2020 May 15;11(5). doi:pii: E554. 10.3390/genes11050554.

PubMed [citation]
PMID:
32429104
PMCID:
PMC7288340

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, SCV002529720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024