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NM_177550.5(SLC13A5):c.533_538dup (p.Ala178_Lys179dup) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 2017
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:
RCV000489414.1

Allele description [Variation Report for NM_177550.5(SLC13A5):c.533_538dup (p.Ala178_Lys179dup)]

NM_177550.5(SLC13A5):c.533_538dup (p.Ala178_Lys179dup)

Gene:
SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_177550.5(SLC13A5):c.533_538dup (p.Ala178_Lys179dup)
HGVS:
  • NC_000017.11:g.6703892_6703897dup
  • NG_034220.1:g.14530_14535dup
  • NM_001143838.3:c.533_538dup
  • NM_001284509.2:c.482_487dup
  • NM_001284510.2:c.404_409dup
  • NM_177550.5:c.533_538dupMANE SELECT
  • NP_001137310.1:p.Ala178_Lys179dup
  • NP_001271438.1:p.Ala161_Lys162dup
  • NP_001271439.1:p.Ala135_Lys136dup
  • NP_808218.1:p.Ala178_Lys179dup
  • LRG_1020:g.14530_14535dup
  • NC_000017.10:g.6607211_6607216dup
  • NM_177550.4:c.533_538dupCCAAGG
Links:
dbSNP: rs1085307616
NCBI 1000 Genomes Browser:
rs1085307616
Molecular consequence:
  • NM_001143838.3:c.533_538dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001284509.2:c.482_487dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001284510.2:c.404_409dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_177550.5:c.533_538dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576853GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 17, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000576853.4

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

Description

A variant of uncertain significance has been identified in the SLC13A5 gene. The c.533_538dupCCAAGG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.533_538dupCCAAGG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.533_538dupCCAAGG variant results in an in-frame duplication of two amino acids, denoted p.Ala178_Lys179dup. However, the c.533_538dupCCAAGG variant is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 23, 2022