U.S. flag

An official website of the United States government

NM_022168.4(IFIH1):c.2016del (p.Asp673fs) AND Aicardi-Goutieres syndrome 7

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV001731900.6

Allele description [Variation Report for NM_022168.4(IFIH1):c.2016del (p.Asp673fs)]

NM_022168.4(IFIH1):c.2016del (p.Asp673fs)

Gene:
IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q24.2
Genomic location:
Preferred name:
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
HGVS:
  • NC_000002.12:g.162277443del
  • NG_011495.1:g.46087del
  • NM_022168.4:c.2016delMANE SELECT
  • NP_071451.2:p.Asp673fs
  • LRG_1235t1:c.2016del
  • LRG_1235:g.46087del
  • LRG_1235p1:p.Asp673fs
  • NC_000002.11:g.163133953del
  • NC_000002.11:g.163133953delT
  • NM_022168.3:c.2016del
  • NM_022168.3:c.2016delA
  • NM_022168.4:c.2016delAMANE SELECT
Protein change:
D673fs
Links:
OMIM: 606951.0013; dbSNP: rs773033563
NCBI 1000 Genomes Browser:
rs773033563
Molecular consequence:
  • NM_022168.4:c.2016del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Aicardi-Goutieres syndrome 7 (AGS7)
Identifiers:
MONDO: MONDO:0014367; MedGen: C3888244; Orphanet: 51; OMIM: 615846

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
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV001984543.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984543Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV001984543 appears to be redundant with SCV002818287.

(ACMG Guidelines, 2015)		Likely benign
(Jan 2, 2020) 		germlineclinical testing

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

Last Updated: Sep 29, 2024