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NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2018
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:
RCV002354890.3

Allele description [Variation Report for NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)]

NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)

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.6088G>A (p.Val2030Ile)
HGVS:
  • NC_000008.11:g.60852691G>A
  • NG_007009.1:g.178912G>A
  • NM_001316690.1:c.1717-9538G>A
  • NM_017780.4:c.6088G>AMANE SELECT
  • NP_060250.2:p.Val2030Ile
  • LRG_176t1:c.6088G>A
  • LRG_176:g.178912G>A
  • NC_000008.10:g.61765250G>A
  • NC_000008.10:g.61765250G>A
  • NM_017780.2:c.6088G>A
  • NM_017780.3:c.6088G>A
  • NM_017780.4:c.6088G>A
Protein change:
V2030I
Links:
dbSNP: rs143796440
NCBI 1000 Genomes Browser:
rs143796440
Molecular consequence:
  • NM_001316690.1:c.1717-9538G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.6088G>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
SCV002656267Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 4, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002656267.2

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

Description

The p.V2030I variant (also known as c.6088G>A), located in coding exon 29 of the CHD7 gene, results from a G to A substitution at nucleotide position 6088. The valine at codon 2030 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024