NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Jun 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718987.1

Allele description [Variation Report for NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)]

NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)

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.8672A>G (p.Asn2891Ser)
HGVS:
  • NC_000008.11:g.60865611A>G
  • NG_007009.1:g.191832A>G
  • NM_001316690.1:c.2525A>G
  • NM_017780.4:c.8672A>GMANE SELECT
  • NP_001303619.1:p.Asn842Ser
  • NP_060250.2:p.Asn2891Ser
  • LRG_176t1:c.8672A>G
  • LRG_176:g.191832A>G
  • NC_000008.10:g.61778170A>G
  • NM_017780.2:c.8672A>G
  • NM_017780.3:c.8672A>G
  • p.Asn2891Ser
Protein change:
N2891S
Links:
dbSNP: rs202039728
NCBI 1000 Genomes Browser:
rs202039728
Molecular consequence:
  • NM_001316690.1:c.2525A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017780.4:c.8672A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849851Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849851.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Subpopulation frequency in support of benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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