NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) AND CHARGE association

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000462550.3

Allele description [Variation Report for NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)]

NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)

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.7285G>T (p.Glu2429Ter)
HGVS:
  • NC_000008.11:g.60856565G>T
  • NG_007009.1:g.182786G>T
  • NM_001316690.1:c.1717-5664G>T
  • NM_017780.4:c.7285G>TMANE SELECT
  • NP_060250.2:p.Glu2429Ter
  • LRG_176:g.182786G>T
  • NC_000008.10:g.61769124G>T
  • NM_017780.3:c.7285G>T
Protein change:
E2429*
Links:
dbSNP: rs773047607
NCBI 1000 Genomes Browser:
rs773047607
Molecular consequence:
  • NM_001316690.1:c.1717-5664G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.7285G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000552238Invitaecriteria provided, single submitter
Pathogenic
(Oct 18, 2016)
germlineclinical testing

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

SCV000680171Institute of Human Genetics, Klinikum rechts der Isarno assertion criteria provided
Likely pathogenic
(Dec 13, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
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, SCV000552238.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal at codon 2429 (p.Glu2429*) of the CHD7 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in CHD7 are known to be pathogenic (PMID: 16400610, 22461308). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Institute of Human Genetics, Klinikum rechts der Isar, SCV000680171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

Support Center