NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) AND History of neurodevelopmental disorder

Clinical significance:Benign (Last evaluated: Jul 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716492.1

Allele description [Variation Report for NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)]

NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)

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.6478G>A (p.Ala2160Thr)
Other names:
NM_017780.3(CHD7):c.6478G>A(p.Ala2160Thr)
HGVS:
  • NC_000008.11:g.60853203G>A
  • NG_007009.1:g.179424G>A
  • NM_001316690.1:c.1717-9026G>A
  • NM_017780.4:c.6478G>AMANE SELECT
  • NP_060250.2:p.Ala2160Thr
  • LRG_176t1:c.6478G>A
  • LRG_176:g.179424G>A
  • NC_000008.10:g.61765762G>A
  • NM_017780.2:c.6478G>A
  • NM_017780.3:c.6478G>A
  • Q9P2D1:p.Ala2160Thr
Protein change:
A2160T
Links:
UniProtKB: Q9P2D1#VAR_068146; dbSNP: rs61753399
NCBI 1000 Genomes Browser:
rs61753399
Molecular consequence:
  • NM_001316690.1:c.1717-9026G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.6478G>A - 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
SCV000847333Ambry Geneticscriteria provided, single submitter
Benign
(Jul 1, 2016)
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, SCV000847333.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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

Last Updated: Sep 6, 2021

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