NM_001065.4(TNFRSF1A):c.194-18_194-17del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 7, 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:: RCV001811394.13

Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.194-18_194-17del]

NM_001065.4(TNFRSF1A):c.194-18_194-17del

Gene:

TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001065.4(TNFRSF1A):c.194-18_194-17del

HGVS:

NC_000012.11:g.6443048_6443049del
NC_000012.12:g.6333882AG[1]
NG_007506.1:g.13211CT[1]
NM_001065.4:c.194-18_194-17delMANE SELECT
NM_001346091.2:c.-131-18_-131-17del
NM_001346092.2:c.-384-18_-384-17del
LRG_193:g.13211CT[1]
NC_000012.11:g.6443048AG[1]
NC_000012.11:g.6443048_6443049del
NC_000012.11:g.6443050_6443051delAG
NM_001065.2:c.194-18_194-17delCT

Links:

dbSNP: rs104895267

NCBI 1000 Genomes Browser:

rs104895267

Molecular consequence:

NM_001065.4:c.194-18_194-17del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346091.2:c.-131-18_-131-17del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346092.2:c.-384-18_-384-17del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001158194	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Aug 7, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001158194

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Likely benign
(Aug 7, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158194.2

#	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: Oct 26, 2024

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