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NM_001386298.1(CIC):c.4537G>A (p.Glu1513Lys) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 24, 2024
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:
RCV004441819.1

Allele description [Variation Report for NM_001386298.1(CIC):c.4537G>A (p.Glu1513Lys)]

NM_001386298.1(CIC):c.4537G>A (p.Glu1513Lys)

Gene:
CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001386298.1(CIC):c.4537G>A (p.Glu1513Lys)
HGVS:
  • NC_000019.10:g.42290578G>A
  • NG_042060.1:g.27042G>A
  • NG_141491.1:g.665G>A
  • NM_001304815.2:c.4537G>A
  • NM_001379480.1:c.4537G>A
  • NM_001379482.1:c.4537G>A
  • NM_001379483.1:c.4537G>A
  • NM_001379484.1:c.1810G>A
  • NM_001379485.1:c.1810G>A
  • NM_001386298.1:c.4537G>AMANE SELECT
  • NM_015125.5:c.1810G>A
  • NP_001291744.1:p.Glu1513Lys
  • NP_001291744.1:p.Glu1513Lys
  • NP_001366409.1:p.Glu1513Lys
  • NP_001366411.1:p.Glu1513Lys
  • NP_001366412.1:p.Glu1513Lys
  • NP_001366413.1:p.Glu604Lys
  • NP_001366414.1:p.Glu604Lys
  • NP_001373227.1:p.Glu1513Lys
  • NP_055940.3:p.Glu604Lys
  • NP_055940.3:p.Glu604Lys
  • LRG_999t1:c.1810G>A
  • LRG_999t2:c.4537G>A
  • LRG_999:g.27042G>A
  • LRG_999p1:p.Glu604Lys
  • LRG_999p2:p.Glu1513Lys
  • NC_000019.9:g.42794730G>A
  • NM_001304815.1:c.4537G>A
  • NM_015125.3:c.1810G>A
  • NM_015125.4:c.1810G>A
Protein change:
E1513K
Molecular consequence:
  • NM_001304815.2:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379480.1:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379482.1:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379483.1:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379484.1:c.1810G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379485.1:c.1810G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386298.1:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015125.5:c.1810G>A - 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
SCV004928259Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 24, 2024) 		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, SCV004928259.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024