NM_000492.4(CFTR):c.1584G>A (p.Glu528=) AND Hereditary pancreatitis

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 1, 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:: RCV000119037.11

Allele description [Variation Report for NM_000492.4(CFTR):c.1584G>A (p.Glu528=)]

NM_000492.4(CFTR):c.1584G>A (p.Glu528=)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1584G>A (p.Glu528=)

Other names:

1716G/A

HGVS:

NC_000007.14:g.117559655G>A
NG_016465.4:g.98872G>A
NM_000492.4:c.1584G>AMANE SELECT
NP_000483.3:p.Glu528=
NP_000483.3:p.Glu528=
LRG_663t1:c.1584G>A
LRG_663:g.98872G>A
LRG_663p1:p.Glu528=
NC_000007.13:g.117199709G>A
NM_000492.3:c.1584G>A
NM_000492.4:c.1584G>A
NP_000483.3:p.(=)
NP_000483.3:p.Glu528Glu
c.1584G>A

Links:

dbSNP: rs1800095

NCBI 1000 Genomes Browser:

rs1800095

Molecular consequence:

NM_000492.4:c.1584G>A - 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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BioProject Links for Protein (Select 1818893211) (1)
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txid9627[Organism] (128550)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000153743	GeneReviews	no classification provided	not provided	germline	literature only
SCV002529681	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Sep 1, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000153743

GeneReviews

no classification provided

not provided

germline

literature only

SCV002529681

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Sep 1, 2020)

germline

curation

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From GeneReviews, SCV000153743.3

#	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 Sema4, Sema4, SCV002529681.1

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

Last Updated: May 26, 2024

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