NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578888.1

Allele description [Variation Report for NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)]

NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)

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.3106C>T (p.Arg1036Ter)
HGVS:
  • NC_000008.11:g.60822651C>T
  • NG_007009.1:g.148872C>T
  • NM_001316690.1:c.1717-39578C>T
  • NM_017780.4:c.3106C>TMANE SELECT
  • NP_060250.2:p.Arg1036Ter
  • LRG_176t1:c.3106C>T
  • LRG_176:g.148872C>T
  • NC_000008.10:g.61735210C>T
  • NM_017780.2:c.3106C>T
  • NM_017780.3:c.3106C>T
Protein change:
R1036*
Links:
dbSNP: rs1554597716
NCBI 1000 Genomes Browser:
rs1554597716
Molecular consequence:
  • NM_001316690.1:c.1717-39578C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.3106C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680502GeneDxcriteria provided, single submitter
Pathogenic
(Oct 31, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000680502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R1036X nonsense variant in the CHD7 gene has been reported previously in association with CHARGE syndrome (Jongmans et al., 2006; Husu et al., 2013). Approximately 45% of CHD7 pathogenic variants are nonsense changes predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay (Janssen et al., 2012; Zentner et al, 2010). Therefore, we classify the variant as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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