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NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) AND Hereditary pancreatitis

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000119036.12

Allele description [Variation Report for NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)]

NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)

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.3870A>G (p.Pro1290=)
Other names:
P1290P (4002A/G)
HGVS:
  • NC_000007.14:g.117642590A>G
  • NG_016465.4:g.181807A>G
  • NM_000492.4:c.3870A>GMANE SELECT
  • NP_000483.3:p.Pro1290=
  • NP_000483.3:p.Pro1290=
  • LRG_663t1:c.3870A>G
  • LRG_663:g.181807A>G
  • LRG_663p1:p.Pro1290=
  • NC_000007.13:g.117282644A>G
  • NM_000492.3:c.3870A>G
  • NP_000483.3:p.(=)
  • NP_000483.3:p.Pro1290Pro
Links:
dbSNP: rs1800130
NCBI 1000 Genomes Browser:
rs1800130
Molecular consequence:
  • NM_000492.4:c.3870A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000153742GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000153742.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024