NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 12, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000177944.4

Allele description [Variation Report for NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)]

NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)

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.8446T>C (p.Leu2816=)
HGVS:
  • NC_000008.11:g.60865385T>C
  • NG_007009.1:g.191606T>C
  • NM_001316690.1:c.2299T>C
  • NM_017780.4:c.8446T>CMANE SELECT
  • NP_001303619.1:p.Leu767=
  • NP_060250.2:p.Leu2816=
  • LRG_176t1:c.8446T>C
  • LRG_176:g.191606T>C
  • NC_000008.10:g.61777944T>C
  • NM_017780.2:c.8446T>C
  • NM_017780.3:c.8446T>C
Links:
dbSNP: rs375204972
NCBI 1000 Genomes Browser:
rs375204972
Molecular consequence:
  • NM_001316690.1:c.2299T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_017780.4:c.8446T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000229907EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 12, 2014)
germlineclinical testing

Citation Link,

SCV001829549GeneDxno assertion criteria provided
Likely benign
(Nov 18, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000229907.5

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

From GeneDx, SCV001829549.1

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

Last Updated: Sep 7, 2021

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