NM_001083116.3(PRF1):c.1595del (p.Gly532fs) AND Autoinflammatory syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 2, 2017
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:: RCV002261994.3

Allele description [Variation Report for NM_001083116.3(PRF1):c.1595del (p.Gly532fs)]

NM_001083116.3(PRF1):c.1595del (p.Gly532fs)

Gene:

PRF1:perforin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_001083116.3(PRF1):c.1595del (p.Gly532fs)

HGVS:

NC_000010.11:g.70598127del
NG_009615.1:g.9650del
NM_001083116.3:c.1595delMANE SELECT
NM_005041.6:c.1595del
NP_001076585.1:p.Gly532fs
NP_005032.2:p.Gly532fs
LRG_94t1:c.1595del
LRG_94:g.9650del
NC_000010.10:g.72357883del
NM_001083116.1:c.1595delG

Protein change:

G532fs

Links:

dbSNP: rs2132474852

NCBI 1000 Genomes Browser:

rs2132474852

Molecular consequence:

NM_001083116.3:c.1595del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005041.6:c.1595del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autoinflammatory syndrome
Identifiers:: MONDO: MONDO:0019751; MedGen: C3890737

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002542772	Genome Diagnostics Laboratory, The Hospital for Sick Children	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 2, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002542772

Genome Diagnostics Laboratory, The Hospital for Sick Children

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 2, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002542772.1

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

#	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: Dec 24, 2023

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