NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) AND Hereditary pancreatitis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 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:: RCV002256004.9

Allele description [Variation Report for NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)]

NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)

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.1865G>A (p.Gly622Asp)

HGVS:

NC_000007.14:g.117592032G>A
NG_016465.4:g.131249G>A
NM_000492.4:c.1865G>AMANE SELECT
NP_000483.3:p.Gly622Asp
NP_000483.3:p.Gly622Asp
LRG_663t1:c.1865G>A
LRG_663:g.131249G>A
LRG_663p1:p.Gly622Asp
NC_000007.13:g.117232086G>A
NM_000492.3:c.1865G>A
NM_000492.4:c.1865G>A
P13569:p.Gly622Asp

Protein change:

G622D

Links:

Genetic Testing Registry (GTR): GTR000074114; UniProtKB: P13569#VAR_000206; dbSNP: rs121908759

NCBI 1000 Genomes Browser:

rs121908759

Molecular consequence:

NM_000492.4:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary pancreatitis (PCTT)
Synonyms:: Hereditary chronic pancreatitis
Identifiers:: MONDO: MONDO:0008185; MedGen: C0238339; Orphanet: 676; OMIM: 167800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002529684	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely pathogenic (Apr 12, 2021)	germline	curation	PubMed (8) [See all records that cite these PMIDs] 25443471, 9736778, 32777524, 23951356, 30420730, 24451227, 18230692, 29805046 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002529684

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely pathogenic
(Apr 12, 2021)

germline

curation

PubMed (8)
[See all records that cite these PMIDs]

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

Citations

PubMed

The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.

Marion H, Natacha G, Brigitte M, François C, Michel R, Corinne T, Emmanuelle G, Thierry B.

J Cyst Fibros. 2015 May;14(3):305-9. doi: 10.1016/j.jcf.2014.11.001. Epub 2014 Nov 28.

PubMed [citation]

PMID:: 25443471

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H.

Hum Mol Genet. 1998 Oct;7(11):1761-9.

PubMed [citation]

PMID:: 9736778

See all PubMed Citations (8)

Details of each submission

From Sema4, Sema4, SCV002529684.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (8)

#	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: Jan 19, 2025

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