NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 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:: RCV001753414.2

Allele description [Variation Report for NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr)]

NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr)

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.361G>A (p.Ala121Thr)

HGVS:

NC_000007.14:g.142751934G>A
NG_001333.2:g.585602G>A
NG_008307.3:g.7451G>A
NM_002769.5:c.361G>AMANE SELECT
NP_002760.1:p.Ala121Thr
LRG_1013t1:c.361G>A
LRG_1013:g.7451G>A
LRG_1013p1:p.Ala121Thr
NC_000007.13:g.142459785G>A
NM_002769.4:c.361G>A

Protein change:

A121T; ALA121THR

Links:

OMIM: 276000.0011; dbSNP: rs199422123

NCBI 1000 Genomes Browser:

rs199422123

Molecular consequence:

NM_002769.5:c.361G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001986120	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001986120

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 10, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001986120.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies demonstrate no impact on autoactivation or secretion rates and conflicting results on degradation (Felderbauer 2008, Szmola 2010); Observed in individuals with a personal history of pancreatitis, but also in unaffected relatives (Felderbauer 2008, Liu 2008); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18511571, 20452997, 18272034, 18946221, 20001681, 16791840)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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