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NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 16, 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:
RCV002362730.9

Allele description [Variation Report for NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)]

NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)

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.6216C>G (p.Pro2072=)
HGVS:
  • NC_000008.11:g.60852941C>G
  • NG_007009.1:g.179162C>G
  • NM_001316690.1:c.1717-9288C>G
  • NM_017780.4:c.6216C>GMANE SELECT
  • NP_060250.2:p.Pro2072=
  • LRG_176t1:c.6216C>G
  • LRG_176:g.179162C>G
  • LRG_176p1:p.(=)
  • NC_000008.10:g.61765500C>G
  • NM_017780.2:c.6216C>G
  • NM_017780.3:c.6216C>G
  • NP_060250.2:p.(=)
Links:
dbSNP: rs199828744
NCBI 1000 Genomes Browser:
rs199828744
Molecular consequence:
  • NM_001316690.1:c.1717-9288C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.6216C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002658162Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 16, 2018) 		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

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM.

Mol Syndromol. 2013 Jun;4(5):235-45. doi: 10.1159/000351127. Epub 2013 May 28.

PubMed [citation]
PMID:
23885230
PMCID:
PMC3711480

Details of each submission

From Ambry Genetics, SCV002658162.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024