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NM_002769.5(PRSS1):c.73G>T (p.Val25Phe) AND Hereditary pancreatitis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 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:
RCV002384876.2

Allele description [Variation Report for NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)]

NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)

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.73G>T (p.Val25Phe)
HGVS:
  • NC_000007.14:g.142750587G>T
  • NG_001333.2:g.584255G>T
  • NG_008307.3:g.6104G>T
  • NM_002769.5:c.73G>TMANE SELECT
  • NP_002760.1:p.Val25Phe
  • LRG_1013t1:c.73G>T
  • LRG_1013:g.6104G>T
  • LRG_1013p1:p.Val25Phe
  • NC_000007.13:g.142458438G>T
  • NM_002769.4:c.73G>T
  • NR_172947.1:n.86G>T
  • NR_172948.1:n.86G>T
Protein change:
V25F
Molecular consequence:
  • NM_002769.5:c.73G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_172947.1:n.86G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172948.1:n.86G>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
SCV002671227Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 23, 2021) 		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, SCV002671227.2

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

Description

The p.V25F variant (also known as c.73G>T), located in coding exon 2 of the PRSS1 gene, results from a G to T substitution at nucleotide position 73. The valine at codon 25 is replaced by phenylalanine, an amino acid with highly similar 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.

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

Last Updated: May 1, 2024