NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) AND not provided

Clinical significance:Likely benign, other (Last evaluated: Mar 15, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000224888.3

Allele description [Variation Report for NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)]

NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)

Gene:
CD320:CD320 molecule [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
HGVS:
  • NC_000019.10:g.8305035CTC[2]
  • NC_000019.9:g.8369919_8369921del
  • NG_028124.1:g.8314GAG[2]
  • NM_001165895.2:c.143-955GAG[2]
  • NM_016579.4:c.256GAG[2]MANE SELECT
  • NP_057663.1:p.Glu88del
  • NC_000019.9:g.8369919CTC[2]
  • NC_000019.9:g.8369919_8369921del
  • NC_000019.9:g.8369919_8369921delCTC
  • NM_016579.3:c.262_264del
  • NM_016579.3:c.262_264delGAG
Protein change:
E88del
Links:
OMIM: 606475.0001; dbSNP: rs150384171
NCBI 1000 Genomes Browser:
rs150384171
Molecular consequence:
  • NM_016579.4:c.256GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001165895.2:c.143-955GAG[2] - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000280766Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(Feb 2, 2016)
germlineclinical testing

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

SCV000700738EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
other
(Mar 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical 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 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000280766.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.009091not providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700738.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

Support Center