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NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV002379916.1

Allele description

NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)

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.127C>T (p.Pro43Ser)
HGVS:
  • NC_000011.10:g.119029243G>A
  • NG_013331.1:g.6664C>T
  • NM_001164277.2:c.127C>TMANE SELECT
  • NM_001164278.2:c.127C>T
  • NM_001164279.2:c.-172+149C>T
  • NM_001164280.2:c.127C>T
  • NM_001467.6:c.127C>T
  • NP_001157749.1:p.Pro43Ser
  • NP_001157749.1:p.Pro43Ser
  • NP_001157750.1:p.Pro43Ser
  • NP_001157752.1:p.Pro43Ser
  • NP_001458.1:p.Pro43Ser
  • LRG_187t1:c.127C>T
  • LRG_187:g.6664C>T
  • LRG_187p1:p.Pro43Ser
  • NC_000011.9:g.118899953G>A
  • NM_001164277.1:c.127C>T
  • NM_001164277.2:c.127C>T
  • NM_001467.5:c.127C>T
Protein change:
P43S
Links:
dbSNP: rs781846380
NCBI 1000 Genomes Browser:
rs781846380
Molecular consequence:
  • NM_001164279.2:c.-172+149C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002694945Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Sep 16, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002694945.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.P43S variant (also known as c.127C>T), located in coding exon 1 of the SLC37A4 gene, results from a C to T substitution at nucleotide position 127. The proline at codon 43 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024