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NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2022
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:
RCV003322106.2

Allele description [Variation Report for NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser)]

NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser)

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.7459G>T (p.Ala2487Ser)
HGVS:
  • NC_000008.11:g.60856739G>T
  • NG_007009.1:g.182960G>T
  • NM_001316690.1:c.1717-5490G>T
  • NM_017780.4:c.7459G>TMANE SELECT
  • NP_060250.2:p.Ala2487Ser
  • NP_060250.2:p.Ala2487Ser
  • LRG_176t1:c.7459G>T
  • LRG_176:g.182960G>T
  • LRG_176p1:p.Ala2487Ser
  • NC_000008.10:g.61769298G>T
  • NM_017780.2:c.7459G>T
Protein change:
A2487S
Molecular consequence:
  • NM_001316690.1:c.1717-5490G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.7459G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004026192Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 8, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnot providednot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV004026192.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
2not providednot providednot providednot providedclinical testing PubMed (1)

Description

PP3, PM2_SUP, PP2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnot providednot providednot providednot providednot providednot providednot providednot provided
2maternalnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2023