NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) AND not provided

Clinical significance:Likely benign (Last evaluated: Jan 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000590628.4

Allele description [Variation Report for NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)]

NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)

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.8416C>G (p.Leu2806Val)
HGVS:
  • NC_000008.11:g.60865355C>G
  • NG_007009.1:g.191576C>G
  • NM_001316690.1:c.2269C>G
  • NM_017780.4:c.8416C>GMANE SELECT
  • NP_001303619.1:p.Leu757Val
  • NP_060250.2:p.Leu2806Val
  • NP_060250.2:p.Leu2806Val
  • NP_060250.2:p.Leu2806Val
  • LRG_176t1:c.8416C>G
  • LRG_176:g.191576C>G
  • LRG_176p1:p.Leu2806Val
  • NC_000008.10:g.61777914C>G
  • NM_017780.2:c.8416C>G
  • NM_017780.3:c.8416C>G
  • Q9P2D1:p.Leu2806Val
Protein change:
L2806V
Links:
UniProtKB: Q9P2D1#VAR_068157; dbSNP: rs45521933
NCBI 1000 Genomes Browser:
rs45521933
Molecular consequence:
  • NM_001316690.1:c.2269C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017780.4:c.8416C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000699441Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Jan 25, 2016)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001799855Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Jia Y, Louw JJ, Breckpot J, Callewaert B, Barrea C, Sznajer Y, Gewillig M, Souche E, Dehaspe L, Vermeesch JR, Lambrechts D, Devriendt K, Corveleyn A.

Am J Med Genet A. 2015 Aug;167A(8):1822-9. doi: 10.1002/ajmg.a.37108. Epub 2015 Apr 30.

PubMed [citation]
PMID:
25931334

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
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799855.1

#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 12, 2021

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