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NM_001379110.1(SLC9A6):c.42C>T (p.Ser14=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 12, 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:
RCV000440082.1

Allele description [Variation Report for NM_001379110.1(SLC9A6):c.42C>T (p.Ser14=)]

NM_001379110.1(SLC9A6):c.42C>T (p.Ser14=)

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.42C>T (p.Ser14=)
HGVS:
  • NC_000023.11:g.135985700C>T
  • NG_017160.1:g.5274C>T
  • NM_001042537.2:c.198C>T
  • NM_001177651.2:c.42C>T
  • NM_001330652.2:c.42C>T
  • NM_001379110.1:c.42C>TMANE SELECT
  • NM_006359.3:c.198C>T
  • NP_001036002.1:p.Ser66=
  • NP_001171122.1:p.Ser14=
  • NP_001317581.1:p.Ser14=
  • NP_001366039.1:p.Ser14=
  • NP_006350.1:p.Ser66=
  • NC_000023.10:g.135067859C>T
  • NM_006359.2:c.198C>T
Links:
dbSNP: rs1057523594
NCBI 1000 Genomes Browser:
rs1057523594
Molecular consequence:
  • NM_001042537.2:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001177651.2:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330652.2:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379110.1:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006359.3:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000532638GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 12, 2016) 		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, SCV000532638.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024