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NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 2, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000730228.5

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)]

NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)

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.1168C>T (p.His390Tyr)
HGVS:
  • NC_000011.10:g.119025032G>A
  • NG_013331.1:g.10874C>T
  • NM_001164277.2:c.1168C>TMANE SELECT
  • NM_001164278.2:c.1234C>T
  • NM_001164279.2:c.949C>T
  • NM_001164280.2:c.1168C>T
  • NM_001467.6:c.1168C>T
  • NP_001157749.1:p.His390Tyr
  • NP_001157749.1:p.His390Tyr
  • NP_001157750.1:p.His412Tyr
  • NP_001157751.1:p.His317Tyr
  • NP_001157752.1:p.His390Tyr
  • NP_001458.1:p.His390Tyr
  • LRG_187t1:c.1168C>T
  • LRG_187:g.10874C>T
  • LRG_187p1:p.His390Tyr
  • NC_000011.9:g.118895742G>A
  • NM_001164277.1:c.1168C>T
  • NM_001467.5:c.1168C>T
  • p.H390Y
Protein change:
H317Y
Links:
dbSNP: rs199764888
NCBI 1000 Genomes Browser:
rs199764888
Molecular consequence:
  • NM_001164277.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.1234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164279.2:c.949C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.1168C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000252294GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 30, 2013) 		germlineclinical testing

Citation Link,

SCV000857949Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Nov 2, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000252294.11

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

Description

p.His390Tyr (CAC>TAC): c.1168 C>T in exon 10 of the SLC37A4 gene (NM_001164277.1) A variant of unknown significance has been identified in the SLC37A4 gene.The H390Y missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The H390Y variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. This change occurs at a position in the SLC37A4 protein that is not highly conserved. In-silico analyses are not consistent in their predictions of whether or not H390Y is damaging to the SLC37A4 protein. Therefore, based on the currently available information, it is unclear whether H390Y is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

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

From Eurofins Ntd Llc (ga), SCV000857949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024