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NM_020458.4(TTC7A):c.2017+22C>A AND Gastrointestinal defects and immunodeficiency syndrome 1

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 2021
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:
RCV001840826.2

Allele description [Variation Report for NM_020458.4(TTC7A):c.2017+22C>A]

NM_020458.4(TTC7A):c.2017+22C>A

Gene:
TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_020458.4(TTC7A):c.2017+22C>A
HGVS:
  • NC_000002.12:g.47050068C>A
  • NG_034143.2:g.138940C>A
  • NM_001288951.2:c.2089+22C>A
  • NM_001288953.2:c.1915+22C>A
  • NM_001288955.2:c.955+22C>A
  • NM_020458.4:c.2017+22C>AMANE SELECT
  • LRG_1323t1:c.2017+22C>A
  • LRG_1323:g.138940C>A
  • NC_000002.11:g.47277207C>A
Links:
dbSNP: rs3816066
NCBI 1000 Genomes Browser:
rs3816066
Molecular consequence:
  • NM_001288951.2:c.2089+22C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288953.2:c.1915+22C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288955.2:c.955+22C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020458.4:c.2017+22C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1)
Synonyms:
Combined immunodeficiency-enteropathy spectrum
Identifiers:
MONDO: MONDO:0800030; MedGen: C5680044; Orphanet: 436252; OMIM: 243150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002100157Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002100157.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024