NM_001065.4(TNFRSF1A):c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT (p.Tyr132fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2021
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:: RCV002261933.4

Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT (p.Tyr132fs)]

NM_001065.4(TNFRSF1A):c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT (p.Tyr132fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001065.4(TNFRSF1A):c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT (p.Tyr132fs)

HGVS:

NC_000012.12:g.6333445_6333446insACCGGGACACCGTGTGTGGCTGCAGGAAGCACCAG
NG_007506.1:g.13650_13651insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT
NM_001065.4:c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGTMANE SELECT
NM_001346091.2:c.69_70insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT
NM_001346092.2:c.-185_-184insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT
NP_001056.1:p.Tyr132fs
NP_001333020.1:p.Tyr24fs
LRG_193t1:c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT
LRG_193:g.13650_13651insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT
NC_000012.11:g.6442611_6442612insACCGGGACACCGTGTGTGGCTGCAGGAAGCACCAG
NM_001065.3:c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT
NR_144351.2:n.655_656insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT

Protein change:

Y132fs

Links:

dbSNP: rs2136821917

NCBI 1000 Genomes Browser:

rs2136821917

Molecular consequence:

NM_001346092.2:c.-185_-184insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001065.4:c.393_394insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346091.2:c.69_70insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_144351.2:n.655_656insCTGGTGCTTCCTGCAGCCACACACGGTGTCCCGGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002541193	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 12, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002541193

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 12, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV002541193.1

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

#	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: Dec 24, 2023

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