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NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 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:
RCV004557257.1

Allele description [Variation Report for NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)]

NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)

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.346C>T (p.Arg116Cys)
HGVS:
  • NC_000007.14:g.142751919C>T
  • NG_001333.2:g.585587C>T
  • NG_008307.3:g.7436C>T
  • NM_002769.5:c.346C>TMANE SELECT
  • NP_002760.1:p.Arg116Cys
  • LRG_1013t1:c.346C>T
  • LRG_1013:g.7436C>T
  • LRG_1013p1:p.Arg116Cys
  • NC_000007.13:g.142459770C>T
  • NM_002769.4:c.346C>T
  • P07477:p.Arg116Cys
Protein change:
R116C; ARG116CYS
Links:
UniProtKB: P07477#VAR_011655; OMIM: 276000.0012; dbSNP: rs387906698
NCBI 1000 Genomes Browser:
rs387906698
Molecular consequence:
  • NM_002769.5:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005046502Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 9, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical interpretation of PRSS1 variants in patients with pancreatitis.

Girodon E, Rebours V, Chen JM, Pagin A, Levy P, Ferec C, Bienvenu T.

Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101497. doi: 10.1016/j.clinre.2020.07.004. Epub 2020 Nov 27. Review.

PubMed [citation]
PMID:
33257277

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, et al.

Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5.

PubMed [citation]
PMID:
33726816
PMCID:
PMC7968334
See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005046502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024