NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 15, 2016
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:: RCV002318748.9

Allele description [Variation Report for NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala)]

NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala)

Gene:

RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.11

Genomic location:

Preferred name:

NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala)

HGVS:

NC_000008.11:g.116847672C>G
NG_032862.1:g.32195G>C
NM_006265.3:c.1724G>CMANE SELECT
NP_006256.1:p.Gly575Ala
NP_006256.1:p.Gly575Ala
LRG_772t1:c.1724G>C
LRG_772:g.32195G>C
LRG_772p1:p.Gly575Ala
NC_000008.10:g.117859911C>G
NM_006265.2:c.1724G>C

Protein change:

G575A

Links:

dbSNP: rs762827934

NCBI 1000 Genomes Browser:

rs762827934

Molecular consequence:

NM_006265.3:c.1724G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850096	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 15, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850096

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 15, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850096.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.G575A variant (also known as c.1724G>C), located in coding exon 13 of the RAD21 gene, results from a G to C substitution at nucleotide position 1724. The glycine at codon 575 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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