NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) AND CHARGE syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 11, 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:: RCV001981054.5

Allele description

NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr)

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.3706G>A (p.Ala1236Thr)

HGVS:

NC_000008.11:g.60830505G>A
NG_007009.1:g.156726G>A
NM_001316690.1:c.1717-31724G>A
NM_017780.4:c.3706G>AMANE SELECT
NP_060250.2:p.Ala1236Thr
LRG_176:g.156726G>A
NC_000008.10:g.61743064G>A

Protein change:

A1236T

Links:

dbSNP: rs771781756

NCBI 1000 Genomes Browser:

rs771781756

Molecular consequence:

NM_001316690.1:c.1717-31724G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_017780.4:c.3706G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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PREDICTED: Pungitius pungitius mitochondrial basic amino acids transporter-like ...
PREDICTED: Pungitius pungitius mitochondrial basic amino acids transporter-like (LOC119195041), mRNA
gi|2662262945|ref|XM_037449632.2|

Nucleotide
unnamed protein product [Mammalian expression vector pCAGGS-FLAGmA20d5]
unnamed protein product [Mammalian expression vector pCAGGS-FLAGmA20d5]
gi|1142720973|emb|SJL87290.1|

Protein
cytochrome oxidase subunit 1, partial (mitochondrion) [Tetrix bolivari]
cytochrome oxidase subunit 1, partial (mitochondrion) [Tetrix bolivari]
gi|1007687923|gb|AMQ77639.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002284298	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002284298

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 11, 2023)

germline

clinical testing

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

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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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002284298.3

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

#	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: Jun 2, 2024

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