NC_000004.12:g.1113690T>C AND Down syndrome

Germline classification:: risk factor (1 submission)
Last evaluated:: Sep 10, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001265538.1

Allele description [Variation Report for NC_000004.12:g.1113690T>C]

NC_000004.12:g.1113690T>C

Genes:

RNF212:ring finger protein 212 [Gene - OMIM - HGNC]
LOC105374344:uncharacterized LOC105374344 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NC_000004.12:g.1113690T>C

HGVS:

NC_000004.12:g.1113690T>C
NG_027812.2:g.5105A>G
NC_000004.11:g.1107478T>C
NG_027812.1:g.4875A>G
NR_134676.1:n.52T>C

Links:

dbSNP: rs62296477

NCBI 1000 Genomes Browser:

rs62296477

Molecular consequence:

NR_134676.1:n.52T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Uncertain function

Condition(s)

Name:: Down syndrome (DS)
Synonyms:: T21
Identifiers:: MONDO: MONDO:0008608; MedGen: C0013080; OMIM: 190685

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001441567	Cytogenetics & Genomics Research Unit, University of Calcutta	no assertion criteria provided	risk factor (Sep 10, 2019)	maternal	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441567

Cytogenetics & Genomics Research Unit, University of Calcutta

no assertion criteria provided

risk factor
(Sep 10, 2019)

maternal

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Bengali	maternal	yes	680	1002	not provided	not provided	not provided	case-control

Details of each submission

From Cytogenetics & Genomics Research Unit, University of Calcutta, SCV001441567.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Bengali	680	not provided	not provided	case-control	not provided

Description

Around 680 maternal RNF212 gene were screened for polymorphisms by Sanger DNA sequencing. We found the above mentioned variant within the promoter region of the gene and it was found to be associated as a risk factor for Down Syndrome Child birth.

Description

This was a variant found in the promoter region of RNF212 from mothers that has down syndrome child. We anticipate this variant as a significant risk factor.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		680	not provided	1002	not provided

Last Updated: Oct 8, 2024

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