NM_017780.4(CHD7):c.4534-13T>G AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Aug 11, 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:
RCV000514439.2

Allele description [Variation Report for NM_017780.4(CHD7):c.4534-13T>G]

NM_017780.4(CHD7):c.4534-13T>G

Gene:
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.4534-13T>G
HGVS:
  • NC_000008.11:g.60841631T>G
  • NG_007009.1:g.167852T>G
  • NM_001316690.1:c.1717-20598T>G
  • NM_017780.4:c.4534-13T>GMANE SELECT
  • LRG_176t1:c.4534-13T>G
  • LRG_176:g.167852T>G
  • NC_000008.10:g.61754190T>G
  • NM_017780.2:c.4534-13T>G
  • NM_017780.3:c.4534-13T>G
Links:
dbSNP: rs114996731
NCBI 1000 Genomes Browser:
rs114996731
Molecular consequence:
  • NM_001316690.1:c.1717-20598T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.4534-13T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000609930Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely benign
(Aug 11, 2017)
germlineclinical testing

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

SCV001946035GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot 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, SCV000609930.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.001675not providednot provided

From GeneDx, SCV001946035.1

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

Last Updated: Nov 27, 2021

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