NM_006147.4(IRF6):c.*803dup AND Popliteal pterygium syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000345813.5

Allele description [Variation Report for NM_006147.4(IRF6):c.*803dup]

NM_006147.4(IRF6):c.*803dup

Gene:

IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_006147.4(IRF6):c.*803dup

HGVS:

NC_000001.11:g.209787623dup
NG_007081.2:g.23518dup
NM_001206696.2:c.*803dup
NM_006147.4:c.*803dupMANE SELECT
NC_000001.10:g.209960968dup
NM_006147.3:c.*803dupG

Links:

dbSNP: rs886045881

NCBI 1000 Genomes Browser:

rs886045881

Molecular consequence:

NM_001206696.2:c.*803dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_006147.4:c.*803dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Popliteal pterygium syndrome (PPS)
Identifiers:: MONDO: MONDO:0017435; MedGen: C0265259

Recent activity

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Homo sapiens plastin 1 (PLS1), transcript variant 2, mRNA
Homo sapiens plastin 1 (PLS1), transcript variant 2, mRNA
gi|1675064030|ref|NM_002670.3|

Nucleotide
Catostemma fragrans voucher P01860449 ribulose-1,5-bisphosphate carboxylase/oxyg...
Catostemma fragrans voucher P01860449 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcl) gene, partial cds; plastid
gi|387768183|gb|JQ626285.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000353772	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000353772

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000353772.2

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

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

Last Updated: Mar 30, 2024

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