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NM_020680.4(SCYL1):c.635T>G (p.Ile212Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2023
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:
RCV003272935.2

Allele description [Variation Report for NM_020680.4(SCYL1):c.635T>G (p.Ile212Ser)]

NM_020680.4(SCYL1):c.635T>G (p.Ile212Ser)

Gene:
SCYL1:SCY1 like pseudokinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_020680.4(SCYL1):c.635T>G (p.Ile212Ser)
HGVS:
  • NC_000011.10:g.65526815T>G
  • NG_047172.1:g.6751T>G
  • NM_001048218.2:c.635T>G
  • NM_001411022.1:c.635T>G
  • NM_020680.4:c.635T>GMANE SELECT
  • NP_001041683.1:p.Ile212Ser
  • NP_001397951.1:p.Ile212Ser
  • NP_065731.3:p.Ile212Ser
  • NC_000011.9:g.65294286T>G
  • NM_020680.3:c.635T>G
Protein change:
I212S
Molecular consequence:
  • NM_001048218.2:c.635T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411022.1:c.635T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020680.4:c.635T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003984250Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003984250.2

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

Description

The c.635T>G (p.I212S) alteration is located in exon 5 (coding exon 5) of the SCYL1 gene. This alteration results from a T to G substitution at nucleotide position 635, causing the isoleucine (I) at amino acid position 212 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 1, 2024