NM_007272.3(CTRC):c.669G>C (p.Gln223His) AND Hereditary pancreatitis

Germline classification:: Uncertain significance (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:: RCV000633997.7

Allele description [Variation Report for NM_007272.3(CTRC):c.669G>C (p.Gln223His)]

NM_007272.3(CTRC):c.669G>C (p.Gln223His)

Gene:

CTRC:chymotrypsin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.21

Genomic location:

Preferred name:

NM_007272.3(CTRC):c.669G>C (p.Gln223His)

HGVS:

NC_000001.11:g.15445626G>C
NG_009253.1:g.12184G>C
NM_007272.3:c.669G>CMANE SELECT
NP_009203.2:p.Gln223His
NC_000001.10:g.15772121G>C
NM_007272.2:c.669G>C

Protein change:

Q223H

Links:

dbSNP: rs752651686

NCBI 1000 Genomes Browser:

rs752651686

Molecular consequence:

NM_007272.3:c.669G>C - 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
SCV000755271	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 4, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27409067, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000755271

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 4, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Genetic Analysis of Japanese Children With Acute Recurrent and Chronic Pancreatitis.

Saito N, Suzuki M, Sakurai Y, Nakano S, Naritaka N, Minowa K, Sai JK, Shimizu T.

J Pediatr Gastroenterol Nutr. 2016 Oct;63(4):431-6. doi: 10.1097/MPG.0000000000001320.

PubMed [citation]

PMID:: 27409067

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000755271.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 223 of the CTRC protein (p.Gln223His). This variant is present in population databases (rs752651686, gnomAD 0.006%). This missense change has been observed in individual(s) with pancreatitis (PMID: 27409067). ClinVar contains an entry for this variant (Variation ID: 528771). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Feb 14, 2024

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