NM_022065.5(THADA):c.5653TTC[1] (p.Phe1886del) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 1, 2023
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:: RCV003426939.5

Allele description [Variation Report for NM_022065.5(THADA):c.5653TTC[1] (p.Phe1886del)]

NM_022065.5(THADA):c.5653TTC[1] (p.Phe1886del)

Gene:

THADA:THADA armadillo repeat containing [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_022065.5(THADA):c.5653TTC[1] (p.Phe1886del)

HGVS:

NC_000002.12:g.43231152GAA[1]
NG_051580.1:g.369890TTC[1]
NM_001083953.1:c.5656_5658delTTC
NM_001083953.2:c.5653TTC[1]
NM_001345923.2:c.5650TTC[1]
NM_001345924.2:c.5530TTC[1]
NM_001345925.2:c.5653TTC[1]
NM_022065.5:c.5653TTC[1]MANE SELECT
NM_198554.1:c.*1724_*1726TTC[1]
NP_001077422.1:p.Phe1886del
NP_001332852.1:p.Phe1885del
NP_001332853.1:p.Phe1845del
NP_001332854.1:p.Phe1886del
NP_071348.3:p.Phe1886del
NC_000002.11:g.43458291GAA[1]
NR_073394.2:n.5595TTC[1]
NR_144316.2:n.5669TTC[1]

Protein change:

F1845del

Molecular consequence:

NM_001083953.2:c.5653TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001345923.2:c.5650TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001345924.2:c.5530TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001345925.2:c.5653TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_022065.5:c.5653TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_073394.2:n.5595TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144316.2:n.5669TTC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004145992	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Feb 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004145992

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Feb 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004145992.5

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

Description

THADA: BS2

#	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		1	not provided	not provided	not provided

Last Updated: May 19, 2024

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Relating variation to medicine