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NM_002769.5(PRSS1):c.306G>T (p.Lys102Asn) AND Hereditary pancreatitis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 23, 2023
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:
RCV004516182.1

Allele description [Variation Report for NM_002769.5(PRSS1):c.306G>T (p.Lys102Asn)]

NM_002769.5(PRSS1):c.306G>T (p.Lys102Asn)

Genes:
TRB:T cell receptor beta locus [Gene - HGNC]
PRSS1:serine protease 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_002769.5(PRSS1):c.306G>T (p.Lys102Asn)
HGVS:
  • NC_000007.14:g.142751879G>T
  • NG_001333.2:g.585547G>T
  • NG_008307.3:g.7396G>T
  • NM_002769.5:c.306G>TMANE SELECT
  • NP_002760.1:p.Lys102Asn
  • LRG_1013t1:c.306G>T
  • LRG_1013:g.7396G>T
  • LRG_1013p1:p.Lys102Asn
  • NC_000007.13:g.142459730G>T
  • NM_002769.4:c.306G>T
  • NR_172947.1:n.248G>T
  • NR_172948.1:n.245G>T
  • NR_172949.1:n.245G>T
  • NR_172950.1:n.159G>T
Protein change:
K102N
Molecular consequence:
  • NM_002769.5:c.306G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_172947.1:n.248G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172948.1:n.245G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172949.1:n.245G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172950.1:n.159G>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005020039Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005020039.1

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

Description

The p.K102N variant (also known as c.306G>T), located in coding exon 3 of the PRSS1 gene, results from a G to T substitution at nucleotide position 306. The lysine at codon 102 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 7, 2024