NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 8, 2022
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:: RCV002864800.2

Allele description [Variation Report for NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly)]

NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly)

Genes:

LOC126860403:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61693034-61694233 [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.1853A>G (p.Asp618Gly)

HGVS:

NC_000008.11:g.60781187A>G
NG_007009.1:g.107408A>G
NG_084903.1:g.813A>G
NM_001316690.1:c.1716+137A>G
NM_017780.4:c.1853A>GMANE SELECT
NP_060250.2:p.Asp618Gly
NP_060250.2:p.Asp618Gly
LRG_176t1:c.1853A>G
LRG_176:g.107408A>G
LRG_176p1:p.Asp618Gly
NC_000008.10:g.61693746A>G
NM_017780.2:c.1853A>G
NM_017780.3:c.1853A>G

Protein change:

D618G

Molecular consequence:

NM_001316690.1:c.1716+137A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.1853A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003624551	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 8, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003624551

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 8, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics.

Sun B, Wang X, Mao J, Zhao Z, Zhang W, Nie M, Wu X.

Front Genet. 2021;12:770680. doi: 10.3389/fgene.2021.770680.

PubMed [citation]

PMID:: 35047002
PMCID:: PMC8762265

Details of each submission

From Ambry Genetics, SCV003624551.2

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

Description

The c.1853A>G (p.D618G) alteration is located in exon 3 (coding exon 2) of the CHD7 gene. This alteration results from a A to G substitution at nucleotide position 1853, causing the aspartic acid (D) at amino acid position 618 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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