NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) AND Axial hypotonia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 13, 2021
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:: RCV001810432.9

Allele description [Variation Report for NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)]

NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)

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.136C>T (p.Pro46Ser)

HGVS:

NC_000005.10:g.132370108C>T
NG_008982.2:g.5405C>T
NM_001308122.2:c.136C>T
NM_003060.4:c.136C>TMANE SELECT
NP_001295051.1:p.Pro46Ser
NP_001295051.1:p.Pro46Ser
NP_003051.1:p.Pro46Ser
NC_000005.9:g.131705800C>T
NM_001308122.1:c.136C>T
NM_003060.3:c.136C>T
NM_003060.4:c.136C>T
O76082:p.Pro46Ser
p.P46S

Protein change:

P46S

Links:

UniProtKB: O76082#VAR_064113; dbSNP: rs202088921

NCBI 1000 Genomes Browser:

rs202088921

Molecular consequence:

NM_001308122.2:c.136C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003060.4:c.136C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Axial hypotonia
Synonyms:: Muscular hypotonia of the trunk
Identifiers:: MedGen: C1853743; Human Phenotype Ontology: HP:0008936

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047382	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 13, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17126586, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047382

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 13, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expanded newborn screening identifies maternal primary carnitine deficiency.

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N.

Mol Genet Metab. 2007 Apr;90(4):441-5. Epub 2006 Nov 28.

PubMed [citation]

PMID:: 17126586

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 Institute of Human Genetics, University Hospital Muenster, SCV002047382.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

ACMG categories: PM1,PM2,PP2,PP3,PP5

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

Last Updated: Jun 17, 2024

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