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NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2014
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:
RCV002343562.2

Allele description [Variation Report for NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)]

NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)

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.5389G>A (p.Gly1797Arg)
HGVS:
  • NC_000008.11:g.60849139G>A
  • NG_007009.1:g.175360G>A
  • NM_001316690.1:c.1717-13090G>A
  • NM_017780.4:c.5389G>AMANE SELECT
  • NP_060250.2:p.Gly1797Arg
  • LRG_176:g.175360G>A
  • NC_000008.10:g.61761698G>A
  • NM_017780.3:c.5389G>A
Protein change:
G1797R
Links:
dbSNP: rs1563656016
NCBI 1000 Genomes Browser:
rs1563656016
Molecular consequence:
  • NM_001316690.1:c.1717-13090G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.5389G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002646695Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2014) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.

PubMed [citation]
PMID:
22461308

Details of each submission

From Ambry Genetics, SCV002646695.2

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

Description

The p.G1797R variant (also known as c.5389G>A), located in coding exon 24 of the CHD7 gene, results from a G to A substitution at nucleotide position 5389. The glycine at codon 1797 is replaced by arginine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6011 samples (12022 alleles) with coverage at this position. This amino acid position is completely conserved on sequence alignment in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Sep 29, 2024