NM_017827.4(SARS2):c.176A>C (p.Asp59Ala) AND Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 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:: RCV003147803.1

Allele description [Variation Report for NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)]

NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)

Genes:

LOC130064387:ATAC-STARR-seq lymphoblastoid active region 14604 [Gene]
SARS2:seryl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)

HGVS:

NC_000019.10:g.38930561T>G
NG_029222.1:g.4854T>G
NG_031865.1:g.5336A>C
NM_001145901.2:c.176A>C
NM_017827.4:c.176A>CMANE SELECT
NP_001139373.1:p.Asp59Ala
NP_060297.1:p.Asp59Ala
NC_000019.9:g.39421201T>G

Protein change:

D59A

Molecular consequence:

NM_001145901.2:c.176A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_017827.4:c.176A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (HUPRAS)
Synonyms:: HUPRA SYNDROME; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
Identifiers:: MONDO: MONDO:0013458; MedGen: C3151209; Orphanet: 363694; OMIM: 613845

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protein CFAP20DC isoform 3 [Homo sapiens]
protein CFAP20DC isoform 3 [Homo sapiens]
gi|38348244|ref|NP_940865.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003835348	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 30, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003835348

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 30, 2022)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Baylor Genetics, SCV003835348.1

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

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

Last Updated: Sep 29, 2024

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