NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) AND Christianson syndrome

replaced

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 5, 2017
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:: RCV000458974.2

Allele description

NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln)

Gene:

SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln)

Other names:

p.R536Q:CGG>CAG

HGVS:

NC_000023.11:g.136033469G>A
NG_017160.1:g.53043G>A
NM_001042537.1:c.1703G>A
NM_001177651.2:c.1547G>A
NM_001330652.2:c.1451G>A
NM_006359.3:c.1607G>A
NP_001036002.1:p.Arg568Gln
NP_001171122.1:p.Arg516Gln
NP_001317581.1:p.Arg484Gln
NP_006350.1:p.Arg536Gln
NC_000023.10:g.135115628G>A
NM_006359.2:c.1607G>A

Protein change:

R484Q

Links:

dbSNP: rs146263125

NCBI 1000 Genomes Browser:

rs146263125

Molecular consequence:

NM_001042537.1:c.1703G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001177651.2:c.1547G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330652.2:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006359.3:c.1607G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Christianson syndrome (MRXSCH)
Synonyms:: SLC9A6-Related Syndromic Mental Retardation; X-linked mental retardation, syndromic, Christianson type
Identifiers:: MedGen: C2678194; Orphanet: 85278; OMIM: 300243

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000560943	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 5, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000560943

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 5, 2017)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000560943.2

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

#	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 2, 2019

ClinVar

Relating variation to medicine