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NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV002698838.2

Allele description [Variation Report for NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)]

NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)

Gene:
KIDINS220:kinase D interacting substrate 220 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p25.1
Genomic location:
Preferred name:
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
HGVS:
  • NC_000002.12:g.8806357G>A
  • NG_053168.1:g.36283C>T
  • NG_053168.2:g.36256C>T
  • NM_001348729.2:c.520C>T
  • NM_001348731.2:c.520C>T
  • NM_001348732.1:c.517C>T
  • NM_001348732.2:c.517C>T
  • NM_001348734.2:c.520C>T
  • NM_001348735.2:c.517C>T
  • NM_001348736.2:c.391C>T
  • NM_001348738.2:c.517C>T
  • NM_001348739.2:c.520C>T
  • NM_001348740.2:c.520C>T
  • NM_001348741.2:c.517C>T
  • NM_001348742.2:c.517C>T
  • NM_001348743.2:c.517C>T
  • NM_001348745.2:c.520C>T
  • NM_020738.4:c.517C>TMANE SELECT
  • NP_001335658.1:p.Pro174Ser
  • NP_001335660.1:p.Pro174Ser
  • NP_001335661.1:p.Pro173Ser
  • NP_001335663.1:p.Pro174Ser
  • NP_001335664.1:p.Pro173Ser
  • NP_001335665.1:p.Pro131Ser
  • NP_001335667.1:p.Pro173Ser
  • NP_001335668.1:p.Pro174Ser
  • NP_001335669.1:p.Pro174Ser
  • NP_001335670.1:p.Pro173Ser
  • NP_001335671.1:p.Pro173Ser
  • NP_001335672.1:p.Pro173Ser
  • NP_001335674.1:p.Pro174Ser
  • NP_065789.1:p.Pro173Ser
  • NC_000002.11:g.8946487G>A
  • NM_020738.2:c.517C>T
  • NR_145964.2:n.690C>T
  • NR_145965.2:n.687C>T
Protein change:
P131S
Molecular consequence:
  • NM_001348729.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348731.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348732.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348734.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348735.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348736.2:c.391C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348738.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348739.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348740.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348741.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348742.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348743.2:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348745.2:c.520C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020738.4:c.517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_145964.2:n.690C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145965.2:n.687C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003726928Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 1, 2022) 		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, SCV003726928.2

#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: Oct 13, 2024