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NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del) AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jul 13, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000173326.7

Allele description [Variation Report for NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)]

NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)

Genes:
EMX2OS:EMX2 opposite strand/antisense RNA [Gene - OMIM - HGNC]
EMX2:empty spiracles homeobox 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q26.11
Genomic location:
Preferred name:
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)
HGVS:
  • NC_000010.11:g.117543428CCG[4]
  • NG_013009.1:g.5984CCG[4]
  • NM_001165924.2:c.161CCG[4]
  • NM_004098.3:c.173_178del6
  • NM_004098.4:c.161CCG[4]MANE SELECT
  • NP_001159396.1:p.Ala58_Ala59del
  • NP_004089.1:p.Ala58_Ala59del
  • NC_000010.10:g.119302939CCG[4]
Links:
dbSNP: rs756693906
NCBI 1000 Genomes Browser:
rs756693906
Molecular consequence:
  • NM_001165924.2:c.161CCG[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004098.4:c.161CCG[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000224426Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely benign
(Mar 17, 2015) 		germlineclinical testing

Citation Link,

SCV000613256Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Jul 13, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224426.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Athena Diagnostics, SCV000613256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024