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NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 16, 2021
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:
RCV002345709.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)]

NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)

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.1012T>C (p.Phe338Leu)
HGVS:
  • NC_000011.10:g.119025302A>G
  • NG_013331.1:g.10604T>C
  • NM_001164277.2:c.1012T>CMANE SELECT
  • NM_001164278.2:c.1078T>C
  • NM_001164279.2:c.793T>C
  • NM_001164280.2:c.1012T>C
  • NM_001467.6:c.1012T>C
  • NP_001157749.1:p.Phe338Leu
  • NP_001157749.1:p.Phe338Leu
  • NP_001157750.1:p.Phe360Leu
  • NP_001157751.1:p.Phe265Leu
  • NP_001157752.1:p.Phe338Leu
  • NP_001458.1:p.Phe338Leu
  • LRG_187t1:c.1012T>C
  • LRG_187:g.10604T>C
  • LRG_187p1:p.Phe338Leu
  • NC_000011.9:g.118896012A>G
  • NM_001164277.1:c.1012T>C
  • NM_001467.5:c.1012T>C
Protein change:
F265L
Links:
dbSNP: rs200662873
NCBI 1000 Genomes Browser:
rs200662873
Molecular consequence:
  • NM_001164277.2:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.1078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164279.2:c.793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.1012T>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002620427Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 16, 2021) 		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, SCV002620427.2

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

Description

The p.F338L variant (also known as c.1012T>C), located in coding exon 7 of the SLC37A4 gene, results from a T to C substitution at nucleotide position 1012. The phenylalanine at codon 338 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 26, 2024