NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000300702.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)]

NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)

Gene:
SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
HGVS:
  • NC_000011.10:g.119026979G>A
  • NG_013331.1:g.8927C>T
  • NM_001164277.1:c.742C>T
  • NM_001164277.2:c.742C>T
  • NM_001164278.2:c.742C>T
  • NM_001164279.2:c.523C>T
  • NM_001164280.2:c.742C>T
  • NM_001467.6:c.742C>T
  • NP_001157749.1:p.Gln248Ter
  • NP_001157749.1:p.Gln248Ter
  • NP_001157750.1:p.Gln248Ter
  • NP_001157751.1:p.Gln175Ter
  • NP_001157752.1:p.Gln248Ter
  • NP_001458.1:p.Gln248Ter
  • LRG_187t1:c.742C>T
  • LRG_187:g.8927C>T
  • LRG_187p1:p.Gln248Ter
  • NC_000011.9:g.118897689G>A
Protein change:
Q175*
Links:
dbSNP: rs781784543
NCBI 1000 Genomes Browser:
rs781784543
Molecular consequence:
  • NM_001164277.1:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164277.2:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164278.2:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164279.2:c.523C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164280.2:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001467.6:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000330663GeneDxcriteria provided, single submitter
Pathogenic
(Jul 20, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330663.5

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

Description

The Q248X pathogenic variant in the SLC37A4 gene has been reported previously in association with glycogen storage disease type 1b when present in the homozygous state or when in trans with another pathogenic variant (Veiga-da-Cunha et al., 1998; Melis et al., 2005; Jun et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q248X variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q248X as a pathogenic variant.

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

Last Updated: Oct 25, 2021

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