NM_001034116.2(EIF2B4):c.706-18_706-17insTGTGTAC AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 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:: RCV003551764.2

Allele description [Variation Report for NM_001034116.2(EIF2B4):c.706-18_706-17insTGTGTAC]

NM_001034116.2(EIF2B4):c.706-18_706-17insTGTGTAC

Genes:

GTF3C2-AS2:GTF3C2 antisense RNA 2 [Gene - HGNC]
EIF2B4:eukaryotic translation initiation factor 2B subunit delta [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_001034116.2(EIF2B4):c.706-18_706-17insTGTGTAC

HGVS:

NC_000002.12:g.27367839_27367840insGTACACA
NG_009305.1:g.7618_7619insTGTGTAC
NM_001034116.2:c.706-18_706-17insTGTGTACMANE SELECT
NM_001318965.2:c.769-18_769-17insTGTGTAC
NM_001318966.2:c.661-18_661-17insTGTGTAC
NM_001318967.2:c.613-18_613-17insTGTGTAC
NM_001318968.2:c.121-18_121-17insTGTGTAC
NM_001318969.2:c.88-18_88-17insTGTGTAC
NM_015636.4:c.703-18_703-17insTGTGTAC
NM_172195.4:c.766-18_766-17insTGTGTAC
NC_000002.11:g.27590706_27590707insGTACACA
NR_183825.1:n.2161_2162insGTACACA
NR_183826.1:n.1084_1085insGTACACA
NR_183827.1:n.1179_1180insGTACACA
NR_183831.1:n.1320_1321insGTACACA
NR_183833.1:n.2302_2303insGTACACA
NR_183835.1:n.2222_2223insGTACACA
NR_183838.1:n.662_663insGTACACA
NR_183839.1:n.664_665insGTACACA

Molecular consequence:

NM_001034116.2:c.706-18_706-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001318965.2:c.769-18_769-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001318966.2:c.661-18_661-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001318967.2:c.613-18_613-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001318968.2:c.121-18_121-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001318969.2:c.88-18_88-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_015636.4:c.703-18_703-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_172195.4:c.766-18_766-17insTGTGTAC - intron variant - [Sequence Ontology: SO:0001627]
NR_183825.1:n.2161_2162insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183826.1:n.1084_1085insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183827.1:n.1179_1180insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183831.1:n.1320_1321insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183833.1:n.2302_2303insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183835.1:n.2222_2223insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183838.1:n.662_663insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183839.1:n.664_665insGTACACA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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apoptosis-related protein PNAS-4, partial [Homo sapiens]
apoptosis-related protein PNAS-4, partial [Homo sapiens]
gi|7229640|gb|AAF42919.1|AF229834_1

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004251676	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 1, 2023)	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

SCV004251676

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 1, 2023)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004251676.1

#	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: Sep 29, 2024

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