NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 28, 2022
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:: RCV000413041.3

Allele description [Variation Report for NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)]

NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)

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.1078_1083dup (p.Gly360_Leu361dup)

HGVS:

NC_000005.10:g.132390715_132390720dup
NG_008982.2:g.26012_26017dup
NM_001308122.2:c.1150_1155dup
NM_003060.4:c.1078_1083dupMANE SELECT
NP_001295051.1:p.Gly384_Leu385dup
NP_003051.1:p.Gly360_Leu361dup
NC_000005.9:g.131726404_131726405insTTGGGC
NC_000005.9:g.131726407_131726412dup
NM_003060.3:c.1078_1083dup
NM_003060.3:c.1078_1083dupGGGCTT
NM_003060.4:c.1078_1083dupGGGCTTMANE SELECT

Links:

dbSNP: rs896634334

NCBI 1000 Genomes Browser:

rs896634334

Molecular consequence:

NM_001308122.2:c.1150_1155dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003060.4:c.1078_1083dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490807	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490807

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 28, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000490807.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In-frame duplication of 2 amino acids in a non-repeat region

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 23, 2024

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Relating variation to medicine