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NM_002769.5(PRSS1):c.435del (p.Asn146fs) AND Hereditary pancreatitis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 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:
RCV002332331.2

Allele description [Variation Report for NM_002769.5(PRSS1):c.435del (p.Asn146fs)]

NM_002769.5(PRSS1):c.435del (p.Asn146fs)

Genes:
TRB:T cell receptor beta locus [Gene - HGNC]
PRSS1:serine protease 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_002769.5(PRSS1):c.435del (p.Asn146fs)
HGVS:
  • NC_000007.14:g.142752008del
  • NG_001333.2:g.585676del
  • NG_008307.3:g.7525del
  • NM_002769.5:c.435delMANE SELECT
  • NP_002760.1:p.Asn146fs
  • LRG_1013t1:c.435del
  • LRG_1013:g.7525del
  • LRG_1013p1:p.Asn146fs
  • NC_000007.13:g.142459859del
  • NM_002769.4:c.435delC
  • NR_172947.1:n.377del
  • NR_172948.1:n.374del
  • NR_172949.1:n.374del
  • NR_172950.1:n.288del
  • NR_172951.1:n.222del
Protein change:
N146fs
Molecular consequence:
  • NM_002769.5:c.435del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_172947.1:n.377del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172948.1:n.374del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172949.1:n.374del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172950.1:n.288del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172951.1:n.222del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002631632Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 27, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002631632.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.435delC variant, located in coding exon 3 of the PRSS1 gene, results from a deletion of one nucleotide at nucleotide position 435, causing a translational frameshift with a predicted alternate stop codon (p.N146Tfs*21). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of PRSS1 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024