NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) AND CHARGE association

Clinical significance:Benign (Last evaluated: Nov 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000867188.3

Allele description [Variation Report for NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)]

NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)

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.7313A>C (p.Gln2438Pro)
HGVS:
  • NC_000008.11:g.60856593A>C
  • NG_007009.1:g.182814A>C
  • NM_001316690.1:c.1717-5636A>C
  • NM_017780.4:c.7313A>CMANE SELECT
  • NP_060250.2:p.Gln2438Pro
  • LRG_176t1:c.7313A>C
  • LRG_176:g.182814A>C
  • NC_000008.10:g.61769152A>C
  • NM_017780.2:c.7313A>C
  • NM_017780.3:c.7313A>C
  • p.Gln2438Pro
Protein change:
Q2438P
Links:
dbSNP: rs754894988
NCBI 1000 Genomes Browser:
rs754894988
Molecular consequence:
  • NM_001316690.1:c.1717-5636A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.7313A>C - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001008386Invitaecriteria provided, single submitter
Benign
(Nov 18, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001008386.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2021

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