NM_001367943.1(TCF7L2):c.685+126del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 30, 2019
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:: RCV001618013.3

Allele description [Variation Report for NM_001367943.1(TCF7L2):c.685+126del]

NM_001367943.1(TCF7L2):c.685+126del

Gene:

TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q25.3

Genomic location:

Preferred name:

NM_001367943.1(TCF7L2):c.685+126del

HGVS:

NC_000010.11:g.113141442del
NG_012631.1:g.196193del
NM_001146274.2:c.685+126del
NM_001146283.2:c.757+126del
NM_001146284.2:c.616+126del
NM_001146285.2:c.616+126del
NM_001146286.2:c.616+126del
NM_001198525.2:c.616+126del
NM_001198526.2:c.616+126del
NM_001198527.2:c.616+126del
NM_001198528.2:c.616+126del
NM_001198529.2:c.616+126del
NM_001198530.2:c.514+126del
NM_001198531.2:c.685+126del
NM_001349870.2:c.256+126del
NM_001349871.1:c.136+126del
NM_001363501.2:c.685+126del
NM_001367943.1:c.685+126delMANE SELECT
NM_030756.5:c.616+126del
NC_000010.10:g.114901201del

Links:

dbSNP: rs55638532

NCBI 1000 Genomes Browser:

rs55638532

Molecular consequence:

NM_001146274.2:c.685+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001146283.2:c.757+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001146284.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001146285.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001146286.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198525.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198526.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198527.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198528.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198529.2:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198530.2:c.514+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198531.2:c.685+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001349870.2:c.256+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001349871.1:c.136+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363501.2:c.685+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367943.1:c.685+126del - intron variant - [Sequence Ontology: SO:0001627]
NM_030756.5:c.616+126del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Ascomycete sp. ZGZII04004 internal transcribed spacer 1, partial sequence; 5.8S ...
Ascomycete sp. ZGZII04004 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|73916953|gb|DQ124132.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001846253	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 30, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001846253

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 30, 2019)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001846253.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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