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NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp) AND Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 3, 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:
RCV003482195.1

Allele description [Variation Report for NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)]

NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)

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.1066T>G (p.Tyr356Asp)
HGVS:
  • NC_000002.12:g.190989646A>C
  • NG_008294.1:g.29605T>G
  • NM_001384880.1:c.1037+1582T>G
  • NM_001384881.1:c.1072T>G
  • NM_001384882.1:c.1066T>G
  • NM_001384883.1:c.967T>G
  • NM_001384884.1:c.1072T>G
  • NM_001384885.1:c.907T>G
  • NM_001384886.1:c.1066T>G
  • NM_001384887.1:c.973T>G
  • NM_001384888.1:c.1066T>G
  • NM_001384889.1:c.1066T>G
  • NM_001384890.1:c.976T>G
  • NM_001384891.1:c.1102T>G
  • NM_007315.4:c.1066T>GMANE SELECT
  • NM_139266.3:c.1066T>G
  • NP_001371810.1:p.Tyr358Asp
  • NP_001371811.1:p.Tyr356Asp
  • NP_001371812.1:p.Tyr323Asp
  • NP_001371813.1:p.Tyr358Asp
  • NP_001371814.1:p.Tyr303Asp
  • NP_001371815.1:p.Tyr356Asp
  • NP_001371816.1:p.Tyr325Asp
  • NP_001371817.1:p.Tyr356Asp
  • NP_001371818.1:p.Tyr356Asp
  • NP_001371819.1:p.Tyr326Asp
  • NP_001371820.1:p.Tyr368Asp
  • NP_009330.1:p.Tyr356Asp
  • NP_009330.1:p.Tyr356Asp
  • NP_644671.1:p.Tyr356Asp
  • LRG_111t1:c.1066T>G
  • LRG_111:g.29605T>G
  • LRG_111p1:p.Tyr356Asp
  • NC_000002.11:g.191854372A>C
  • NM_007315.3:c.1066T>G
Protein change:
Y303D
Molecular consequence:
  • NM_001384880.1:c.1037+1582T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384881.1:c.1072T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384882.1:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384883.1:c.967T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384884.1:c.1072T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384885.1:c.907T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384886.1:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384887.1:c.973T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384888.1:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384889.1:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384890.1:c.976T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384891.1:c.1102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007315.4:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139266.3:c.1066T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Synonyms:
Candidiasis, familial, 7; Immunodeficiency 31C
Identifiers:
MONDO: MONDO:0013599; MedGen: C3279990; Orphanet: 391487; OMIM: 614162

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223854Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 3, 2024) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

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 Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe, SCV004223854.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)

Description

The Y356D variant has been identified in a Brazilian child experiencing recurrent skin and mucosal infections due to Candida albicans. None of the family members have been found to exhibit the same clinical phenotype. Both the mother and father were confirmed, through Sanger sequencing, not to harbor the variant. Missense mutations represent a common mechanism underlying diseases related to the STAT1 gene, and the Y356D mutation exhibits an extremely low frequency. Considering segregation studies and adherence to the American College of Medical Genetics and Genomics (ACMG) criteria, the Y356D variant aligns with our criteria for classification as likely pathogenic (PM2; PP2; PP3; and PS2)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 4, 2024