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NM_001379110.1(SLC9A6):c.448-6dup AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 31, 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:
RCV002334587.2

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.448-6dup]

NM_001379110.1(SLC9A6):c.448-6dup

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.448-6dup
HGVS:
  • NC_000023.11:g.135998476dup
  • NG_017160.1:g.18050dup
  • NM_001042537.2:c.604-6dup
  • NM_001177651.2:c.448-6dup
  • NM_001330652.2:c.352-6dup
  • NM_001379110.1:c.448-6dupMANE SELECT
  • NM_006359.3:c.508-6dup
  • NC_000023.10:g.135080623_135080624insT
  • NC_000023.10:g.135080635dup
  • NM_006359.2:c.508-6dupT
Links:
dbSNP: rs375038684
NCBI 1000 Genomes Browser:
rs375038684
Molecular consequence:
  • NM_001042537.2:c.604-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001177651.2:c.448-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330652.2:c.352-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379110.1:c.448-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006359.3:c.508-6dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002641893Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 31, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002641893.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024