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NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) AND Hereditary pancreatitis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 21, 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:
RCV002257405.8

Allele description [Variation Report for NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)]

NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)

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.3897A>G (p.Thr1299=)
HGVS:
  • NC_000007.14:g.117652865A>G
  • NG_016465.4:g.192082A>G
  • NM_000492.4:c.3897A>GMANE SELECT
  • NP_000483.3:p.Thr1299=
  • NP_000483.3:p.Thr1299=
  • LRG_663t1:c.3897A>G
  • LRG_663:g.192082A>G
  • LRG_663p1:p.Thr1299=
  • NC_000007.13:g.117292919A>G
  • NM_000492.3:c.3897A>G
  • NP_000483.3:p.(=)
  • p.Thr1299Thr
Links:
dbSNP: rs1800131
NCBI 1000 Genomes Browser:
rs1800131
Molecular consequence:
  • NM_000492.4:c.3897A>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
SCV002529721Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Apr 21, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002529721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024