U.S. flag

An official website of the United States government

NM_001379110.1(SLC9A6):c.-20G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 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:
RCV000494024.2

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.-20G>A]

NM_001379110.1(SLC9A6):c.-20G>A

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.-20G>A
HGVS:
  • NC_000023.11:g.135985639G>A
  • NG_017160.1:g.5213G>A
  • NM_001042537.2:c.137G>A
  • NM_001177651.2:c.-20G>A
  • NM_001330652.2:c.-20G>A
  • NM_001379110.1:c.-20G>AMANE SELECT
  • NM_006359.3:c.137G>A
  • NP_001036002.1:p.Gly46Asp
  • NP_006350.1:p.Gly46Asp
  • NC_000023.10:g.135067798G>A
  • NC_000023.10:g.135067798G>A
  • NM_001042537.1(SLC9A6):c.137G>A
  • NM_006359.2:c.137G>A
  • p.Gly46Asp
Protein change:
G46D
Links:
dbSNP: rs782736274
NCBI 1000 Genomes Browser:
rs782736274
Molecular consequence:
  • NM_001177651.2:c.-20G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330652.2:c.-20G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001379110.1:c.-20G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001042537.2:c.137G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006359.3:c.137G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582244GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 12, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582244.3

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

Description

The G46D variant in the SLC9A6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G46D variant is observed in 1/47218 (0.002%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G46D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G46D as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024