NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 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:: RCV000518895.9

Allele description [Variation Report for NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp)]

NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp)

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.221G>A (p.Gly74Asp)

HGVS:

NC_000005.10:g.132370193G>A
NG_008982.2:g.5490G>A
NM_001308122.2:c.221G>A
NM_003060.4:c.221G>AMANE SELECT
NP_001295051.1:p.Gly74Asp
NP_003051.1:p.Gly74Asp
NC_000005.9:g.131705885G>A
NM_003060.3:c.221G>A

Protein change:

G74D

Links:

dbSNP: rs1031179639

NCBI 1000 Genomes Browser:

rs1031179639

Molecular consequence:

NM_001308122.2:c.221G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003060.4:c.221G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Monocytes and macrophages (Illumina)
Monocytes and macrophages (Illumina)
Accession: GDS3555

GEO DataSets
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000620278	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 24, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000620278

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 24, 2017)

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, SCV000620278.1

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

Description

The G74D variant in the SLC22A5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G74D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G74D variant is a non-conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G74D as a variant of uncertain significance.

#	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: Oct 8, 2024

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