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NM_001379110.1(SLC9A6):c.-43C>T AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 16, 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:
RCV002313615.9

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.-43C>T]

NM_001379110.1(SLC9A6):c.-43C>T

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_001379110.1(SLC9A6):c.-43C>T
HGVS:
  • NC_000023.11:g.135985616C>T
  • NG_017160.1:g.5190C>T
  • NM_001042537.2:c.114C>T
  • NM_001177651.2:c.-43C>T
  • NM_001330652.2:c.-43C>T
  • NM_001379110.1:c.-43C>TMANE SELECT
  • NM_006359.3:c.114C>T
  • NP_001036002.1:p.Asp38=
  • NP_006350.1:p.Asp38=
  • NC_000023.10:g.135067775C>T
  • NM_006359.2:c.114C>T
Links:
dbSNP: rs1569523768
NCBI 1000 Genomes Browser:
rs1569523768
Molecular consequence:
  • NM_001177651.2:c.-43C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330652.2:c.-43C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001379110.1:c.-43C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001042537.2:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006359.3:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000848748Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 16, 2017) 		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, SCV000848748.5

#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: Nov 3, 2024