NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 4, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000482290.1

Allele description [Variation Report for NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr)]

NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr)

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.5995G>A (p.Ala1999Thr)

HGVS:

NC_000008.11:g.60852598G>A
NG_007009.1:g.178819G>A
NM_001316690.1:c.1717-9631G>A
NM_017780.4:c.5995G>AMANE SELECT
NP_060250.2:p.Ala1999Thr
LRG_176t1:c.5995G>A
LRG_176:g.178819G>A
NC_000008.10:g.61765157G>A
NM_017780.2:c.5995G>A

Protein change:

A1999T

Links:

dbSNP: rs1064794548

NCBI 1000 Genomes Browser:

rs1064794548

Molecular consequence:

NM_001316690.1:c.1717-9631G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.5995G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569418	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 4, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569418

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 4, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000569418.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The A1999T variant in the CHD7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1999T variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A1999T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A1999T as a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine