NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 29, 2024
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:: RCV001538538.6

Allele description [Variation Report for NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)]

NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)

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.6193C>T (p.Arg2065Cys)

HGVS:

NC_000008.11:g.60852918C>T
NG_007009.1:g.179139C>T
NM_001316690.1:c.1717-9311C>T
NM_017780.4:c.6193C>TMANE SELECT
NP_060250.2:p.Arg2065Cys
LRG_176t1:c.6193C>T
LRG_176:g.179139C>T
NC_000008.10:g.61765477C>T
NM_017780.2:c.6193C>T
NM_017780.3:c.6193C>T

Protein change:

R2065C

Links:

dbSNP: rs1064794250

NCBI 1000 Genomes Browser:

rs1064794250

Molecular consequence:

NM_001316690.1:c.1717-9311C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.6193C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001756204	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 29, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001756204

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 29, 2024)

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, SCV001756204.5

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Other missense variants at the same residue (R2065S/G/H) and in nearby residues (R2062W, E2066K) reported in published literature or observed at GeneDx in patients with one or more features of CHARGE syndrome; however, the clinical significance of missense variants in this region remains uncertain (HGMD); This variant is associated with the following publications: (PMID: 29304373, 28475860, 25064402, 34348883, 34297504, 25077900, 35904121, 38205164, 38790272)

#	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: Oct 13, 2024

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