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NM_002769.5(PRSS1):c.217C>T (p.Leu73=) AND Hereditary pancreatitis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 7, 2020
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:
RCV002432872.2

Allele description [Variation Report for NM_002769.5(PRSS1):c.217C>T (p.Leu73=)]

NM_002769.5(PRSS1):c.217C>T (p.Leu73=)

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.217C>T (p.Leu73=)
HGVS:
  • NC_000007.14:g.142751790C>T
  • NG_001333.2:g.585458C>T
  • NG_008307.3:g.7307C>T
  • NM_002769.5:c.217C>TMANE SELECT
  • NP_002760.1:p.Leu73=
  • LRG_1013t1:c.217C>T
  • LRG_1013:g.7307C>T
  • LRG_1013p1:p.Leu73=
  • NC_000007.13:g.142459641C>T
  • NM_002769.4:c.217C>T
  • NR_172949.1:n.156C>T
  • NR_172950.1:n.70C>T
Molecular consequence:
  • NR_172949.1:n.156C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_172950.1:n.70C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_002769.5:c.217C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002727307Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 7, 2020) 		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, SCV002727307.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024