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NM_017780.4(CHD7):c.1630C>T (p.Pro544Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2018
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:
RCV002401279.2

Allele description [Variation Report for NM_017780.4(CHD7):c.1630C>T (p.Pro544Ser)]

NM_017780.4(CHD7):c.1630C>T (p.Pro544Ser)

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.1630C>T (p.Pro544Ser)
HGVS:
  • NC_000008.11:g.60743062C>T
  • NG_007009.1:g.69283C>T
  • NM_001316690.1:c.1630C>T
  • NM_017780.4:c.1630C>TMANE SELECT
  • NP_001303619.1:p.Pro544Ser
  • NP_060250.2:p.Pro544Ser
  • NP_060250.2:p.Pro544Ser
  • LRG_176t1:c.1630C>T
  • LRG_176:g.69283C>T
  • LRG_176p1:p.Pro544Ser
  • NC_000008.10:g.61655621C>T
  • NM_017780.2:c.1630C>T
  • NM_017780.3:c.1630C>T
Protein change:
P544S
Molecular consequence:
  • NM_001316690.1:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017780.4:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002708717Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 29, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002708717.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.P544S variant (also known as c.1630C>T), located in coding exon 1 of the CHD7 gene, results from a C to T substitution at nucleotide position 1630. The proline at codon 544 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024