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NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 4, 2024
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:
RCV002358707.10

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)]

NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)

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.517G>A (p.Val173Ile)
Other names:
NM_001379110.1(SLC9A6):c.517G>A; p.Val173Ile
HGVS:
  • NC_000023.11:g.135998551G>A
  • NG_017160.1:g.18125G>A
  • NM_001042537.2:c.673G>A
  • NM_001177651.2:c.517G>A
  • NM_001330652.2:c.421G>A
  • NM_001379110.1:c.517G>AMANE SELECT
  • NM_006359.3:c.577G>A
  • NP_001036002.1:p.Val225Ile
  • NP_001171122.1:p.Val173Ile
  • NP_001317581.1:p.Val141Ile
  • NP_001366039.1:p.Val173Ile
  • NP_006350.1:p.Val193Ile
  • NC_000023.10:g.135080710G>A
  • NM_006359.2:c.577G>A
Protein change:
V141I
Links:
dbSNP: rs782117973
NCBI 1000 Genomes Browser:
rs782117973
Molecular consequence:
  • NM_001042537.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177651.2:c.517G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330652.2:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379110.1:c.517G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006359.3:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002648911Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 4, 2024) 		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, SCV002648911.3

#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 24, 2024