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NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 29, 2024
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:
RCV001538538.6

Allele description [Variation Report for NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)]

NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)

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.6193C>T (p.Arg2065Cys)
HGVS:
  • NC_000008.11:g.60852918C>T
  • NG_007009.1:g.179139C>T
  • NM_001316690.1:c.1717-9311C>T
  • NM_017780.4:c.6193C>TMANE SELECT
  • NP_060250.2:p.Arg2065Cys
  • LRG_176t1:c.6193C>T
  • LRG_176:g.179139C>T
  • NC_000008.10:g.61765477C>T
  • NM_017780.2:c.6193C>T
  • NM_017780.3:c.6193C>T
Protein change:
R2065C
Links:
dbSNP: rs1064794250
NCBI 1000 Genomes Browser:
rs1064794250
Molecular consequence:
  • NM_001316690.1:c.1717-9311C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.6193C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001756204GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Aug 29, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001756204.5

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Other missense variants at the same residue (R2065S/G/H) and in nearby residues (R2062W, E2066K) reported in published literature or observed at GeneDx in patients with one or more features of CHARGE syndrome; however, the clinical significance of missense variants in this region remains uncertain (HGMD); This variant is associated with the following publications: (PMID: 29304373, 28475860, 25064402, 34348883, 34297504, 25077900, 35904121, 38205164, 38790272)

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

Last Updated: Oct 13, 2024