U.S. flag

An official website of the United States government

NM_007315.4(STAT1):c.518A>T (p.Lys173Ile) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 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:
RCV000522452.1

Allele description [Variation Report for NM_007315.4(STAT1):c.518A>T (p.Lys173Ile)]

NM_007315.4(STAT1):c.518A>T (p.Lys173Ile)

Gene:
STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_007315.4(STAT1):c.518A>T (p.Lys173Ile)
HGVS:
  • NC_000002.12:g.190999649T>A
  • NG_008294.1:g.19602A>T
  • NM_001384880.1:c.518A>T
  • NM_001384881.1:c.524A>T
  • NM_001384882.1:c.518A>T
  • NM_001384883.1:c.511A>T
  • NM_001384884.1:c.524A>T
  • NM_001384885.1:c.518A>T
  • NM_001384886.1:c.518A>T
  • NM_001384887.1:c.518A>T
  • NM_001384888.1:c.518A>T
  • NM_001384889.1:c.518A>T
  • NM_001384890.1:c.428A>T
  • NM_001384891.1:c.554A>T
  • NM_007315.4:c.518A>TMANE SELECT
  • NM_139266.3:c.518A>T
  • NP_001371809.1:p.Lys173Ile
  • NP_001371810.1:p.Lys175Ile
  • NP_001371811.1:p.Lys173Ile
  • NP_001371812.1:p.Asn171Tyr
  • NP_001371813.1:p.Lys175Ile
  • NP_001371814.1:p.Lys173Ile
  • NP_001371815.1:p.Lys173Ile
  • NP_001371816.1:p.Lys173Ile
  • NP_001371817.1:p.Lys173Ile
  • NP_001371818.1:p.Lys173Ile
  • NP_001371819.1:p.Lys143Ile
  • NP_001371820.1:p.Lys185Ile
  • NP_009330.1:p.Lys173Ile
  • NP_009330.1:p.Lys173Ile
  • NP_644671.1:p.Lys173Ile
  • LRG_111t1:c.518A>T
  • LRG_111:g.19602A>T
  • LRG_111p1:p.Lys173Ile
  • NC_000002.11:g.191864375T>A
  • NM_007315.3:c.518A>T
Protein change:
K143I
Links:
dbSNP: rs1553497886
NCBI 1000 Genomes Browser:
rs1553497886
Molecular consequence:
  • NM_001384880.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384881.1:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384882.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384883.1:c.511A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384884.1:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384885.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384886.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384887.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384888.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384889.1:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384890.1:c.428A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384891.1:c.554A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007315.4:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139266.3:c.518A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620128GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 18, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000620128.2

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

Description

The K173I variant in the STAT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K173I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K173I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (D168E, Y170N, D171N, F172L, C174R) have been reported in the Human Gene Mutation Database in association with chronic mucocutaneous candidiasis (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret K173I as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022