NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) AND Hereditary pancreatitis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002247261.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)]

NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)

HGVS:

NC_000007.14:g.117587805G>A
NG_016465.4:g.127022G>A
NG_056131.3:g.760G>A
NM_000492.4:c.1651G>AMANE SELECT
NP_000483.3:p.Gly551Ser
NP_000483.3:p.Gly551Ser
LRG_663t1:c.1651G>A
LRG_663:g.127022G>A
LRG_663p1:p.Gly551Ser
NC_000007.13:g.117227859G>A
NG_056131.1:g.129G>A
NM_000492.3:c.1651G>A
P13569:p.Gly551Ser

Protein change:

G551S; GLY551SER

Links:

PharmGKB: 1183960780; PharmGKB: 1183960780PA165950341; PharmGKB Clinical Annotation: 1183960780; UniProtKB: P13569#VAR_000180; OMIM: 602421.0037; dbSNP: rs121909013

NCBI 1000 Genomes Browser:

rs121909013

Molecular consequence:

NM_000492.4:c.1651G>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

Recent activity

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Chain H, MOB-like protein phocein
Chain H, MOB-like protein phocein
gi|2003953465|pdb|7K36|H

Protein
RecName: Full=Cysteine-rich secretory protein 3; Short=CRISP-3; AltName: Full=Sp...
RecName: Full=Cysteine-rich secretory protein 3; Short=CRISP-3; AltName: Full=Specific granule protein of 28 kDa; Short=SGP28; Flags: Precursor
gi|1706135|sp|P54108.1|CRIS3_HUMAN

Protein
Quercus michauxii (47)
PMC
Human sample from Homo sapiens
Human sample from Homo sapiens

biosample
PREDICTED: Homo sapiens leukocyte receptor cluster member 8 (LENG8), transcript ...
PREDICTED: Homo sapiens leukocyte receptor cluster member 8 (LENG8), transcript variant X6, mRNA
gi|2462495809|ref|XM_054331487.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002518679	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002518679

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002518679.1

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

Last Updated: Sep 29, 2024

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