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NM_022464.5(SIL1):c.1030-18G>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2017
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:
RCV000488969.1

Allele description [Variation Report for NM_022464.5(SIL1):c.1030-18G>C]

NM_022464.5(SIL1):c.1030-18G>C

Gene:
SIL1:SIL1 nucleotide exchange factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_022464.5(SIL1):c.1030-18G>C
HGVS:
  • NC_000005.10:g.138947491C>G
  • NG_008112.1:g.255886G>C
  • NG_008112.2:g.255886G>C
  • NM_001037633.2:c.1030-18G>C
  • NM_022464.5:c.1030-18G>CMANE SELECT
  • NC_000005.9:g.138283180C>G
  • NM_022464.4:c.1030-18G>C
Links:
dbSNP: rs769052639
NCBI 1000 Genomes Browser:
rs769052639
Molecular consequence:
  • NM_001037633.2:c.1030-18G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022464.5:c.1030-18G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000577214GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 7, 2017) 		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, SCV000577214.4

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

Description

The c.1030-18 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Multiple in-silico splice prediction models failed to predict whether or not this variant would alter gene splicing. However, a different nucleotide substitution at the same position (c.1030-18 G>A) has been previously reported in an individual with Marinesco-Sjogren syndrome who harbored an addtional SIL1 variant (Senderek et al., 2005). Therefore, the c.1030-18 G>C variant may lead to abnormal gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown.

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

Last Updated: Apr 23, 2022