NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) AND Hereditary pancreatitis

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 3, 2015
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:: RCV000119040.3

Allele description

NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)

Genes:

LOC111674475:CFTR intron 11 enhancer [Gene]
CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)

HGVS:

NC_000007.14:g.117587806G>A
NG_016465.4:g.127023G>A
NM_000492.3:c.1652G>A
NP_000483.3:p.Gly551Asp
NC_000007.13:g.117227860G>A
NG_016465.1:g.112844G>A
NP_000483.3:p.Glu551Asp
P13569:p.Gly551Asp

Protein change:

E551D; GLY551ASP

Links:

PharmGKB Clinical Annotation: 981755803; UniProtKB: P13569#VAR_000179; OMIM: 602421.0013; dbSNP: rs75527207

NCBI 1000 Genomes Browser:

rs75527207

Allele Frequency:

0.00014(A), GO-ESP

Molecular consequence:

NM_000492.3:c.1652G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000153746	GeneReviews	no assertion criteria provided	Pathogenic (Mar 13, 2014)	germline	literature only
SCV000330923	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Dec 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000153746

GeneReviews

no assertion criteria provided

Pathogenic
(Mar 13, 2014)

germline

literature only

SCV000330923

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Dec 3, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	9	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneReviews, SCV000153746.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000330923.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	not provided

#	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		9	not provided	not provided	not provided

Last Updated: Nov 26, 2018

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