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NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 20, 2016
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:
RCV002313798.9

Allele description [Variation Report for NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)]

NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)

Genes:
LOC126860403:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61693034-61694233 [Gene]
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
Other names:
p.Ala685_Lys686dup
HGVS:
  • NC_000008.10:g.61693942_61693943insAAAGCA
  • NC_000008.11:g.60781387_60781392dup
  • NG_007009.1:g.107608_107613dup
  • NM_001316690.1:c.1716+337_1716+342dup
  • NM_017780.4:c.2053_2058dupMANE SELECT
  • NP_060250.2:p.Ala685_Lys686dup
  • LRG_176:g.107608_107613dup
  • NC_000008.10:g.61693942_61693943insAAAGCA
  • NC_000008.10:g.61693946_61693951dup
  • NC_000008.10:g.61693951_61693952insGCAAAA
  • NM_017780.3:c.2053_2058dup
  • NM_017780.3:c.2053_2058dupGCAAAA
Links:
dbSNP: rs377139749
NCBI 1000 Genomes Browser:
rs377139749

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
SCV000848028Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jul 20, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.

Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28.

PubMed [citation]
PMID:
18445044

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, SCV000848028.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as 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: Nov 3, 2024