NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp) AND Hypouricemia, renal, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 1, 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:: RCV003156158.1

Allele description [Variation Report for NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp)]

NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp)

Gene:

SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

Preferred name:

NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp)

HGVS:

NC_000004.12:g.9920458G>T
NG_011540.1:g.124791C>A
NG_011540.2:g.124812C>A
NM_001001290.2:c.842C>A
NM_020041.3:c.929C>AMANE SELECT
NP_001001290.1:p.Ala281Asp
NP_064425.2:p.Ala310Asp
NC_000004.11:g.9922082G>T

Protein change:

A281D

Molecular consequence:

NM_001001290.2:c.842C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020041.3:c.929C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypouricemia, renal, 2
Synonyms:: HYPOURICEMIA, RENAL, 2, AUTOSOMAL DOMINANT; HYPOURICEMIA, RENAL, 2, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0012793; MedGen: C2677549; OMIM: 612076

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003845208	Department of Urology, Hunan Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 1, 2022)	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003845208

Department of Urology, Hunan Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 1, 2022)

paternal

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Urology, Hunan Children's Hospital, SCV003845208.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Apr 1, 2023

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Relating variation to medicine