NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 2018
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:: RCV000733658.4

Allele description [Variation Report for NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala)]

NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala)

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.1534C>G (p.Pro512Ala)

HGVS:

NC_000008.11:g.60742966C>G
NG_007009.1:g.69187C>G
NM_001316690.1:c.1534C>G
NM_017780.4:c.1534C>GMANE SELECT
NP_001303619.1:p.Pro512Ala
NP_060250.2:p.Pro512Ala
LRG_176:g.69187C>G
NC_000008.10:g.61655525C>G
NM_017780.3:c.1534C>G

Protein change:

P512A

Links:

dbSNP: rs748635676

NCBI 1000 Genomes Browser:

rs748635676

Molecular consequence:

NM_001316690.1:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_017780.4:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000861748	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jun 22, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000861748

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jun 22, 2018)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861748.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

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