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NM_183375.5(PRSS48):c.82G>A (p.Val28Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 18, 2024
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:
RCV004649057.1

Allele description [Variation Report for NM_183375.5(PRSS48):c.82G>A (p.Val28Ile)]

NM_183375.5(PRSS48):c.82G>A (p.Val28Ile)

Genes:
SH3D19:SH3 domain containing 19 [Gene - OMIM - HGNC]
PRSS48:serine protease 48 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.3
Genomic location:
Preferred name:
NM_183375.5(PRSS48):c.82G>A (p.Val28Ile)
HGVS:
  • NC_000004.12:g.151279825G>A
  • NG_029721.2:g.50780C>T
  • NM_001378121.1:c.112+45416C>T
  • NM_001378122.1:c.112+45416C>TMANE SELECT
  • NM_001378128.1:c.-697+45416C>T
  • NM_001378131.1:c.-688+45416C>T
  • NM_183375.5:c.82G>AMANE SELECT
  • NP_899231.4:p.Val28Ile
  • NC_000004.11:g.152200977G>A
  • NM_183375.2:c.82G>A
Protein change:
V28I
Molecular consequence:
  • NM_001378121.1:c.112+45416C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378122.1:c.112+45416C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378128.1:c.-697+45416C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378131.1:c.-688+45416C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_183375.5:c.82G>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
SCV005148048Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 18, 2024) 		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, SCV005148048.1

#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: Sep 1, 2024