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NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2023
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:
RCV003263897.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)]

NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)

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.13G>A (p.Gly5Ser)
HGVS:
  • NC_000011.10:g.119029357C>T
  • NG_013331.1:g.6550G>A
  • NM_001164277.2:c.13G>AMANE SELECT
  • NM_001164278.2:c.13G>A
  • NM_001164279.2:c.-172+35G>A
  • NM_001164280.2:c.13G>A
  • NM_001467.6:c.13G>A
  • NP_001157749.1:p.Gly5Ser
  • NP_001157749.1:p.Gly5Ser
  • NP_001157750.1:p.Gly5Ser
  • NP_001157752.1:p.Gly5Ser
  • NP_001458.1:p.Gly5Ser
  • LRG_187t1:c.13G>A
  • LRG_187:g.6550G>A
  • LRG_187p1:p.Gly5Ser
  • NC_000011.9:g.118900067C>T
  • NC_000011.9:g.118900067C>T
  • NM_001164277.1:c.13G>A
Protein change:
G5S
Links:
dbSNP: rs571267951
NCBI 1000 Genomes Browser:
rs571267951
Molecular consequence:
  • NM_001164279.2:c.-172+35G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003981589Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 2023) 		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, SCV003981589.2

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

Description

The c.13G>A (p.G5S) alteration is located in exon 3 (coding exon 1) of the SLC37A4 gene. This alteration results from a G to A substitution at nucleotide position 13, causing the glycine (G) at amino acid position 5 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024