NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 1, 2023
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:: RCV003326490.11

Allele description [Variation Report for NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)]

NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)

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.1768A>G (p.Ile590Val)

HGVS:

NC_000008.11:g.60781102A>G
NG_007009.1:g.107323A>G
NM_001316690.1:c.1716+52A>G
NM_017780.4:c.1768A>GMANE SELECT
NP_060250.2:p.Ile590Val
LRG_176:g.107323A>G
NC_000008.10:g.61693661A>G
NM_017780.3:c.1768A>G

Protein change:

I590V

Links:

dbSNP: rs769625033

NCBI 1000 Genomes Browser:

rs769625033

Molecular consequence:

NM_001316690.1:c.1716+52A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.1768A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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DEA(D/H)-box RNA helicase family protein [Arabidopsis thaliana]
DEA(D/H)-box RNA helicase family protein [Arabidopsis thaliana]
Gene ID:843605

Gene
At.22983 AND (alive[prop]) (1)
Gene
Homo sapiens kinesin family member 23 (KIF23), transcript variant 3, mRNA
Homo sapiens kinesin family member 23 (KIF23), transcript variant 3, mRNA
gi|1676441045|ref|NM_001281301.2|

Nucleotide
Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1,...
Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA
gi|1519313585|ref|NM_052958.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004032816	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004032816

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Aug 1, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004032816.11

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

Description

CHD7: BP4

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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