NM_017780.4(CHD7):c.216T>C (p.Tyr72=) AND not provided

Clinical significance:Benign (Last evaluated: Aug 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000857583.3

Allele description [Variation Report for NM_017780.4(CHD7):c.216T>C (p.Tyr72=)]

NM_017780.4(CHD7):c.216T>C (p.Tyr72=)

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.216T>C (p.Tyr72=)
HGVS:
  • NC_000008.11:g.60741648T>C
  • NG_007009.1:g.67869T>C
  • NM_001316690.1:c.216T>C
  • NM_017780.4:c.216T>CMANE SELECT
  • NP_001303619.1:p.Tyr72=
  • NP_060250.2:p.Tyr72=
  • LRG_176t1:c.216T>C
  • LRG_176:g.67869T>C
  • LRG_176p1:p.(=)
  • NC_000008.10:g.61654207T>C
  • NM_017780.2:c.216T>C
  • NM_017780.3:c.216T>C
  • NP_060250.2:p.(=)
  • p.Tyr72Tyr
Links:
dbSNP: rs16926453
NCBI 1000 Genomes Browser:
rs16926453
Molecular consequence:
  • NM_001316690.1:c.216T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_017780.4:c.216T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV001143547Athena Diagnostics Inccriteria provided, single submitter
Benign
(Aug 1, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Bartels CF, Scacheri C, White L, Scacheri PC, Bale S.

Genet Test Mol Biomarkers. 2010 Dec;14(6):881-91. doi: 10.1089/gtmb.2010.0101.

PubMed [citation]
PMID:
21158681
PMCID:
PMC3001831

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001143547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

Support Center