U.S. flag

An official website of the United States government

NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV000735313.3

Allele description [Variation Report for NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)]

NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)

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.1154C>T (p.Thr385Met)
HGVS:
  • NC_000002.12:g.190986921G>A
  • NG_008294.1:g.32330C>T
  • NM_001384880.1:c.1094C>T
  • NM_001384881.1:c.1160C>T
  • NM_001384882.1:c.1148C>T
  • NM_001384883.1:c.1055C>T
  • NM_001384884.1:c.1160C>T
  • NM_001384885.1:c.995C>T
  • NM_001384886.1:c.1154C>T
  • NM_001384887.1:c.1061C>T
  • NM_001384888.1:c.1124C>T
  • NM_001384889.1:c.1154C>T
  • NM_001384890.1:c.1064C>T
  • NM_001384891.1:c.1190C>T
  • NM_007315.4:c.1154C>TMANE SELECT
  • NM_139266.3:c.1154C>T
  • NP_001371809.1:p.Thr365Met
  • NP_001371810.1:p.Thr387Met
  • NP_001371811.1:p.Thr383Met
  • NP_001371812.1:p.Thr352Met
  • NP_001371813.1:p.Thr387Met
  • NP_001371814.1:p.Thr332Met
  • NP_001371815.1:p.Thr385Met
  • NP_001371816.1:p.Thr354Met
  • NP_001371817.1:p.Thr375Met
  • NP_001371818.1:p.Thr385Met
  • NP_001371819.1:p.Thr355Met
  • NP_001371820.1:p.Thr397Met
  • NP_009330.1:p.Thr385Met
  • NP_009330.1:p.Thr385Met
  • NP_644671.1:p.Thr385Met
  • LRG_111t1:c.1154C>T
  • LRG_111:g.32330C>T
  • LRG_111p1:p.Thr385Met
  • NC_000002.11:g.191851647G>A
  • NM_007315.3:c.1154C>T
  • P42224:p.Thr385Met
Protein change:
T332M; THR385MET
Links:
UniProtKB: P42224#VAR_075499; OMIM: 600555.0022; dbSNP: rs587777630
NCBI 1000 Genomes Browser:
rs587777630
Molecular consequence:
  • NM_001384880.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384881.1:c.1160C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384882.1:c.1148C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384883.1:c.1055C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384884.1:c.1160C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384885.1:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384886.1:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384887.1:c.1061C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384888.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384889.1:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384890.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384891.1:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007315.4:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139266.3:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Hypothyroidism
Identifiers:
MONDO: MONDO:0005420; MedGen: C0020676; Human Phenotype Ontology: HP:0000821
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Primary hypothyroidism
Identifiers:
MedGen: C4316995; Human Phenotype Ontology: HP:0000832
Name:
Severe T-cell immunodeficiency
Identifiers:
MedGen: C4025208; Human Phenotype Ontology: HP:0005352
Name:
Chronic oral candidiasis
Identifiers:
MedGen: C4024599; Human Phenotype Ontology: HP:0009098
Name:
Liver abscess
Identifiers:
MedGen: C0023885; Human Phenotype Ontology: HP:0100523

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
SCV000854466Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Non-Hispanic, Non-Hispanicgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Non-Hispanic, Non-Hispanicnot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Apr 15, 2024