NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 26, 2018
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:: RCV000199476.7

Allele description [Variation Report for NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)]

NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)

Gene:

SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)

Other names:

p.F168L:TTC>TTA

HGVS:

NC_000020.11:g.46725540C>A
NG_016284.1:g.20901C>A
NM_030777.4:c.504C>AMANE SELECT
NP_110404.1:p.Phe168Leu
NC_000020.10:g.45354179C>A
NM_030777.3:c.504C>A

Protein change:

F168L

Links:

dbSNP: rs540023880

NCBI 1000 Genomes Browser:

rs540023880

Molecular consequence:

NM_030777.4:c.504C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000250737	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Nov 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000250737

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Nov 26, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000250737.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The F168L variant of uncertain significance in the SLC2A10 gene has not been published in association with ATS to our knowledge. This variant is observed in 26/246090 (0.01%) alleles from individuals of multiple ethnic backgrounds, including one homozygous individual, in large population cohorts indicating this may be a rare benign variant (Lek et al., 2016). The F168L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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