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NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 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:
RCV003224442.1

Allele description [Variation Report for NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)]

NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)

Gene:
IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.2
Genomic location:
Preferred name:
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
HGVS:
  • NC_000002.12:g.162268161A>G
  • NG_011495.1:g.55369T>C
  • NM_022168.4:c.2733T>CMANE SELECT
  • NP_071451.2:p.Ser911=
  • LRG_1235t1:c.2733T>C
  • LRG_1235:g.55369T>C
  • LRG_1235p1:p.Ser911=
  • NC_000002.11:g.163124671A>G
Links:
dbSNP: rs767453829
NCBI 1000 Genomes Browser:
rs767453829
Molecular consequence:
  • NM_022168.4:c.2733T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Singleton-Merten syndrome 1 (SGMRT1)
Synonyms:
Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness; Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
Identifiers:
MONDO: MONDO:0024535; MedGen: C4225427; Orphanet: 85191; OMIM: 182250
Name:
Aicardi-Goutieres syndrome 7 (AGS7)
Identifiers:
MONDO: MONDO:0014367; MedGen: C3888244; Orphanet: 51; OMIM: 615846
Name:
Immunodeficiency 95 (IMD95)
Identifiers:
MONDO: MONDO:0030692; MedGen: C5676929; OMIM: 619773

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003920039Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 30, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003920039.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

IFIH1 NM_022168.3 exon 14 p.Ser911= (c.2733T>C): This variant has not been reported in the literature but is present in 1/33504 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs767453829). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Sep 29, 2024