NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys) AND SLC17A8-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 15, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003971110.2

Allele description [Variation Report for NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys)]

NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys)

Gene:

SLC17A8:solute carrier family 17 member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.1

Genomic location:

Preferred name:

NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys)

HGVS:

NC_000012.12:g.100419926G>A
NG_021175.1:g.67848G>A
NM_001145288.2:c.1387G>A
NM_139319.2:c.1537G>A
NM_139319.3:c.1537G>AMANE SELECT
NP_001138760.1:p.Glu463Lys
NP_647480.1:p.Glu513Lys
NC_000012.11:g.100813704G>A

Protein change:

E463K

Links:

dbSNP: rs767334253

NCBI 1000 Genomes Browser:

rs767334253

Molecular consequence:

NM_001145288.2:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139319.3:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SLC17A8-related disorder
Synonyms:: SLC17A8-related condition
Identifiers:

Recent activity

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Mus musculus MKL/myocardin-like 2, mRNA (cDNA clone MGC:150100 IMAGE:40110019), ...
Mus musculus MKL/myocardin-like 2, mRNA (cDNA clone MGC:150100 IMAGE:40110019), complete cds
gi|124297972|gb|BC131644.1|

Nucleotide
Thioalkalivibrio sp. ALE23 F573DRAFT_scaffold00050.50, whole genome shotgun sequ...
Thioalkalivibrio sp. ALE23 F573DRAFT_scaffold00050.50, whole genome shotgun sequence
gi|484084811|ref|NZ_KB900080.1||gnl NZ_ARKM01|F573DRAFT_scaffold00050.50

Nucleotide
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|193783598|dbj|BAG53509.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004793163	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Jun 15, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004793163

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Jun 15, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004793163.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Oct 13, 2024

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