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NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2018
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:
RCV000657963.1

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)]

NM_001379110.1(SLC9A6):c.130G>C (p.Ala44Pro)

Genes:
LOC130068747:ATAC-STARR-seq lymphoblastoid active region 29988 [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.130G>C (p.Ala44Pro)
HGVS:
  • NC_000023.11:g.135985788G>C
  • NG_017160.1:g.5362G>C
  • NM_001042537.2:c.286G>C
  • NM_001177651.2:c.130G>C
  • NM_001330652.2:c.130G>C
  • NM_001379110.1:c.130G>CMANE SELECT
  • NM_006359.3:c.286G>C
  • NP_001036002.1:p.Ala96Pro
  • NP_001171122.1:p.Ala44Pro
  • NP_001317581.1:p.Ala44Pro
  • NP_001366039.1:p.Ala44Pro
  • NP_006350.1:p.Ala96Pro
  • NC_000023.10:g.135067947G>C
  • NM_006359.2:c.286G>C
Protein change:
A44P
Links:
dbSNP: rs1556614849
NCBI 1000 Genomes Browser:
rs1556614849
Molecular consequence:
  • NM_001042537.2:c.286G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177651.2:c.130G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330652.2:c.130G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379110.1:c.130G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006359.3:c.286G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779734GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 25, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779734.2

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

Description

A variant of uncertain significance has been identified in the SLC9A6 gene. The A96P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A96P variant is not observed in large population cohorts (Lek et al., 2016). The A96P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024