NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) AND CHARGE association

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 27, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000578198.3

Allele description [Variation Report for NM_017780.4(CHD7):c.925C>T (p.Gln309Ter)]

NM_017780.4(CHD7):c.925C>T (p.Gln309Ter)

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.925C>T (p.Gln309Ter)

HGVS:

NC_000008.11:g.60742357C>T
NG_007009.1:g.68578C>T
NM_001316690.1:c.925C>T
NM_017780.4:c.925C>TMANE SELECT
NP_001303619.1:p.Gln309Ter
NP_060250.2:p.Gln309Ter
LRG_176t1:c.925C>T
LRG_176:g.68578C>T
NC_000008.10:g.61654916C>T
NM_017780.2:c.925C>T

Protein change:

Q309*

Links:

dbSNP: rs1436515577

NCBI 1000 Genomes Browser:

rs1436515577

Molecular consequence:

NM_001316690.1:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_017780.4:c.925C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: CHARGE association (CHARGE)
Synonyms:: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680051	Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School	no assertion criteria provided	Pathogenic (Oct 27, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001197957	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680051

Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School

no assertion criteria provided

Pathogenic
(Oct 27, 2017)

unknown

research

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

SCV001197957

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL.

Genet Med. 2018 Sep;20(9):1022-1029. doi: 10.1038/gim.2017.233. Epub 2018 Jan 4.

PubMed [citation]

PMID:: 29300383
PMCID:: PMC6034995

Details of each submission

From Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School, SCV000680051.1

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

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

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001197957.1

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

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

Last Updated: Dec 31, 2022

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