NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter) AND Adams-Oliver syndrome 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 14, 2022
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:: RCV001781037.4

Allele description [Variation Report for NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter)]

NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter)

Gene:

EOGT:EGF domain specific O-linked N-acetylglucosamine transferase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

3p14.1

Genomic location:

Preferred name:

NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter)

HGVS:

NC_000003.12:g.68988937delinsGT
NG_042829.1:g.29958delinsAC
NM_001278689.2:c.912delinsACMANE SELECT
NM_173654.3:c.832-1424delinsAC
NP_001265618.1:p.Tyr304Ter
NC_000003.11:g.69038088delinsGT
NR_103826.2:n.1167delinsAC

Protein change:

Y304*

Links:

dbSNP: rs2107224808

NCBI 1000 Genomes Browser:

rs2107224808

Molecular consequence:

NM_173654.3:c.832-1424delinsAC - intron variant - [Sequence Ontology: SO:0001627]
NR_103826.2:n.1167delinsAC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001278689.2:c.912delinsAC - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Adams-Oliver syndrome 4 (AOS4)
Identifiers:: MONDO: MONDO:0014124; MedGen: C3809092; Orphanet: 974; OMIM: 615297

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002024490	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 14, 2022)	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

SCV002024490

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 14, 2022)

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 Revvity Omics, Revvity, SCV002024490.3

#	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: Mar 16, 2024

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