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NM_001039503.3(PRSS53):c.694G>C (p.Glu232Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 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:
RCV004101234.1

Allele description [Variation Report for NM_001039503.3(PRSS53):c.694G>C (p.Glu232Gln)]

NM_001039503.3(PRSS53):c.694G>C (p.Glu232Gln)

Gene:
PRSS53:serine protease 53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_001039503.3(PRSS53):c.694G>C (p.Glu232Gln)
HGVS:
  • NC_000016.10:g.31086153C>G
  • NM_001039503.3:c.694G>CMANE SELECT
  • NP_001034592.1:p.Glu232Gln
  • NC_000016.9:g.31097474C>G
  • NM_001039503.2:c.694G>C
Protein change:
E232Q
Molecular consequence:
  • NM_001039503.3:c.694G>C - 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
SCV003568261Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 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, SCV003568261.2

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

Description

The c.694G>C (p.E232Q) alteration is located in exon 6 (coding exon 6) of the PRSS53 gene. This alteration results from a G to C substitution at nucleotide position 694, causing the glutamic acid (E) at amino acid position 232 to be replaced by a glutamine (Q). 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 10, 2024