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NM_001365088.1(SLC12A6):c.271+17825C>T AND not provided

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Aug 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001532255.21

Allele description [Variation Report for NM_001365088.1(SLC12A6):c.271+17825C>T]

NM_001365088.1(SLC12A6):c.271+17825C>T

Gene:
SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_001365088.1(SLC12A6):c.271+17825C>T
HGVS:
  • NC_000015.10:g.34318585G>A
  • NG_007951.1:g.24480C>T
  • NM_001042494.2:c.94+17825C>T
  • NM_001042495.2:c.94+17825C>T
  • NM_001042496.2:c.244+17825C>T
  • NM_001042497.2:c.271+17825C>T
  • NM_001365088.1:c.271+17825C>TMANE SELECT
  • NM_005135.2:c.94C>T
  • NM_133647.2:c.271+17825C>T
  • NP_005126.1:p.Arg32Trp
  • LRG_270t1:c.94C>T
  • LRG_270:g.24480C>T
  • LRG_270p1:p.Arg32Trp
  • NC_000015.9:g.34610786G>A
Protein change:
R32W
Links:
dbSNP: rs150751809
NCBI 1000 Genomes Browser:
rs150751809
Molecular consequence:
  • NM_001042494.2:c.94+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042495.2:c.94+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042496.2:c.244+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042497.2:c.271+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365088.1:c.271+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133647.2:c.271+17825C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005135.2:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
10

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001747726CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Aug 1, 2024)
germlineclinical testing

Citation Link,

SCV001920398Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV004564050ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Likely benign
(Nov 14, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes10not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001747726.19

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testingnot provided

Description

SLC12A6: BP4, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided10not providednot providednot provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001920398.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024