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NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs) AND Christianson syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2022
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:
RCV002072270.2

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)]

NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)

Gene:
SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)
HGVS:
  • NC_000023.11:g.136024461dup
  • NG_017160.1:g.44035dup
  • NM_001042537.2:c.1594dup
  • NM_001177651.2:c.1438dup
  • NM_001330652.2:c.1342dup
  • NM_001379110.1:c.1438dupMANE SELECT
  • NM_006359.3:c.1498dup
  • NP_001036002.1:p.Met532fs
  • NP_001171122.1:p.Met480fs
  • NP_001317581.1:p.Met448fs
  • NP_001366039.1:p.Met480fs
  • NP_006350.1:p.Met500fs
  • NC_000023.10:g.135106620dup
  • NM_006359.2:c.1498dup
  • NM_006359.2:c.1498dupA
Protein change:
M448fs
Links:
dbSNP: rs2148190013
NCBI 1000 Genomes Browser:
rs2148190013
Molecular consequence:
  • NM_001042537.2:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177651.2:c.1438dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330652.2:c.1342dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379110.1:c.1438dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006359.3:c.1498dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Christianson syndrome (MRXSCH)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; SLC9A6-Related Syndromic Mental Retardation; X-linked mental retardation, syndromic, Christianson type
Identifiers:
MONDO: MONDO:0010278; MedGen: C2678194; Orphanet: 85278; OMIM: 300243

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002320818Provincial Medical Genetics Program of British Columbia, University of British Columbia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Provincial Medical Genetics Program of British Columbia, University of British Columbia, SCV002320818.2

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

Last Updated: May 16, 2025