NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn) AND Hereditary pancreatitis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 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:: RCV002417755.2

Allele description [Variation Report for NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)]

NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)

Gene:

SPINK1:serine peptidase inhibitor Kazal type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)

HGVS:

NC_000005.10:g.147824689A>T
NG_008356.2:g.19543T>A
NM_001354966.2:c.212T>A
NM_001379610.1:c.212T>AMANE SELECT
NM_003122.5:c.212T>A
NP_001341895.1:p.Ile71Asn
NP_001366539.1:p.Ile71Asn
NP_003113.2:p.Ile71Asn
NC_000005.9:g.147204252A>T
NM_003122.3:c.212T>A

Protein change:

I71N

Molecular consequence:

NM_001354966.2:c.212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379610.1:c.212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003122.5:c.212T>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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002729003	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 12, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729003

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 12, 2021)

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 Ambry Genetics, SCV002729003.2

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

Description

The p.I71N variant (also known as c.212T>A), located in coding exon 4 of the SPINK1 gene, results from a T to A substitution at nucleotide position 212. The isoleucine at codon 71 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 1, 2024

ClinVar

Relating variation to medicine