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NM_001305173.2(PRSS54):c.133G>A (p.Glu45Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2022
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:
RCV004207717.1

Allele description [Variation Report for NM_001305173.2(PRSS54):c.133G>A (p.Glu45Lys)]

NM_001305173.2(PRSS54):c.133G>A (p.Glu45Lys)

Gene:
PRSS54:serine protease 54 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_001305173.2(PRSS54):c.133G>A (p.Glu45Lys)
HGVS:
  • NC_000016.10:g.58291089C>T
  • NM_001080492.2:c.133G>A
  • NM_001305173.2:c.133G>AMANE SELECT
  • NM_001305174.2:c.-35+2643G>A
  • NP_001073961.1:p.Glu45Lys
  • NP_001292102.1:p.Glu45Lys
  • NC_000016.9:g.58324993C>T
  • NM_001080492.1:c.133G>A
Protein change:
E45K
Molecular consequence:
  • NM_001305174.2:c.-35+2643G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080492.2:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305173.2:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003709783Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 2022) 		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, SCV003709783.2

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

Description

The c.133G>A (p.E45K) alteration is located in exon 4 (coding exon 2) of the PRSS54 gene. This alteration results from a G to A substitution at nucleotide position 133, causing the glutamic acid (E) at amino acid position 45 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024