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NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 8, 2016
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:
RCV002313057.9

Allele description [Variation Report for NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)]

NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)

Gene:
SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)
HGVS:
  • NC_000017.11:g.6703999C>T
  • NG_034220.1:g.14423G>A
  • NM_001143838.3:c.426G>A
  • NM_001284509.2:c.375G>A
  • NM_001284510.2:c.297G>A
  • NM_177550.5:c.426G>AMANE SELECT
  • NP_001137310.1:p.Thr142=
  • NP_001271438.1:p.Thr125=
  • NP_001271439.1:p.Thr99=
  • NP_808218.1:p.Thr142=
  • NP_808218.1:p.Thr142=
  • LRG_1020t1:c.426G>A
  • LRG_1020:g.14423G>A
  • LRG_1020p1:p.Thr142=
  • NC_000017.10:g.6607318C>T
  • NM_177550.3:c.426G>A
  • NM_177550.4:c.426G>A
Links:
dbSNP: rs72836208
NCBI 1000 Genomes Browser:
rs72836208
Molecular consequence:
  • NM_001143838.3:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001284509.2:c.375G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001284510.2:c.297G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_177550.5:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000848292Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 8, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848292.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024