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NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 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:
RCV000658193.1

Allele description [Variation Report for NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)]

NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)

Gene:
SLC35C1:solute carrier family 35 member C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
HGVS:
  • NC_000011.10:g.45805830G>A
  • NG_009875.1:g.6759G>A
  • NM_001145265.2:c.-11G>A
  • NM_001145266.2:c.-11G>A
  • NM_018389.5:c.29G>AMANE SELECT
  • NP_060859.4:p.Arg10Lys
  • NP_060859.4:p.Arg10Lys
  • LRG_107t1:c.29G>A
  • LRG_107:g.6759G>A
  • LRG_107p1:p.Arg10Lys
  • NC_000011.9:g.45827381G>A
  • NM_001145266.1:c.-11G>A
  • NM_018389.4:c.29G>A
Protein change:
R10K
Links:
dbSNP: rs567155861
NCBI 1000 Genomes Browser:
rs567155861
Molecular consequence:
  • NM_001145265.2:c.-11G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_018389.5:c.29G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779964GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 29, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779964.2

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

Description

The R10K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R10K variant is observed in 4/34,418 (0.01%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The R10K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Oct 8, 2024