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NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 29, 2022
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:
RCV000186155.25

Allele description [Variation Report for NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)]

NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)

Gene:
SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
Other names:
I89GfsX45
HGVS:
  • NC_000005.10:g.132370226_132370236dup
  • NG_008982.2:g.5523_5533dup
  • NM_001308122.2:c.254_264dup
  • NM_003060.4:c.254_264dupMANE SELECT
  • NP_001295051.1:p.Ile89fs
  • NP_003051.1:p.Ile89fs
  • NC_000005.10:g.132370222_132370223insACCGGCTCGCC
  • NC_000005.9:g.131705914_131705915insACCGGCTCGCC
  • NC_000005.9:g.131705918_131705928dup
  • NM_003060.3:c.254_264dup
  • NM_003060.3:c.254_264dupGGCTCGCCACC
Protein change:
I89fs
Links:
dbSNP: rs377767449
NCBI 1000 Genomes Browser:
rs377767449
Molecular consequence:
  • NM_001308122.2:c.254_264dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003060.4:c.254_264dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239181GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 29, 2022) 		germlineclinical testing

Citation Link,

SCV001247709CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jan 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000239181.7

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 11715001, 23379544, 15714519, 16652335, 21922592, 28841266, 31980526)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001247709.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: May 1, 2024