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NM_004817.4(TJP2):c.1290_1292del (p.Ser432del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Dec 21, 2017
Accession:
VCV000595454.1
Variation ID:
595454
Description:
3bp deletion
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NM_004817.4(TJP2):c.1290_1292del (p.Ser432del)

Allele ID
586516
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
9q21.11
Genomic location
9: 69227844-69227846 (GRCh38) GRCh38 UCSC
9: 71842760-71842762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.71842760_71842762del
NC_000009.12:g.69227844_69227846del
NM_001170414.2:c.1221_1223del NP_001163885.1:p.Ser409del
... more HGVS
Protein change
S432del
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs780493380
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 21, 2017 RCV000731003.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TJP2 - - GRCh38
GRCh37
294 349

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000858773.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TJP2 - - - -

Record last updated Nov 01, 2019