NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 23, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000594650.2

Allele description [Variation Report for NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)]

NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)

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.7313A>C (p.Gln2438Pro)
HGVS:
  • NC_000008.11:g.60856593A>C
  • NG_007009.1:g.182814A>C
  • NM_001316690.1:c.1717-5636A>C
  • NM_017780.4:c.7313A>CMANE SELECT
  • NP_060250.2:p.Gln2438Pro
  • LRG_176t1:c.7313A>C
  • LRG_176:g.182814A>C
  • NC_000008.10:g.61769152A>C
  • NM_017780.2:c.7313A>C
  • NM_017780.3:c.7313A>C
  • p.Gln2438Pro
Protein change:
Q2438P
Links:
dbSNP: rs754894988
NCBI 1000 Genomes Browser:
rs754894988
Molecular consequence:
  • NM_001316690.1:c.1717-5636A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.7313A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000703789EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Dec 19, 2016)
germlineclinical testing

Citation Link,

SCV000967184Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 23, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000703789.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000967184.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Gln2438Pro in exon 34 of CHD7: This variant is not expected to have clinical s ignificance because it has been identified in 0.51% (59/11570) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754894988).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Aug 17, 2021

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