NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 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:
RCV000507691.15

Allele description [Variation Report for NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)]

NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)

Gene:
SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)
HGVS:
  • NC_000005.10:g.132385367C>T
  • NG_008982.2:g.20664C>T
  • NM_001308122.2:c.764C>T
  • NM_003060.4:c.692C>TMANE SELECT
  • NP_001295051.1:p.Ser255Phe
  • NP_001295051.1:p.Ser255Phe
  • NP_003051.1:p.Ser231Phe
  • NC_000005.9:g.131721059C>T
  • NM_001308122.1:c.764C>T
Protein change:
S255F
Links:
dbSNP: rs386134206
NCBI 1000 Genomes Browser:
rs386134206
Molecular consequence:
  • NM_001308122.2:c.764C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000605134ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jan 26, 2017) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000605134.1

#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: Nov 3, 2024