NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 2022
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:: RCV003798704.2

Allele description [Variation Report for NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)]

NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)

Gene:

IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q24.2

Genomic location:

Preferred name:

NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)

HGVS:

NC_000002.12:g.162277631_162277632delinsTA
NG_011495.1:g.45898_45899delinsTA
NM_022168.4:c.1827_1828delinsTAMANE SELECT
NP_071451.2:p.Glu609_Ala610delinsAspThr
LRG_1235t1:c.1827_1828delinsTA
LRG_1235:g.45898_45899delinsTA
LRG_1235p1:p.Glu609_Ala610delinsAspThr
NC_000002.11:g.163134141_163134142delinsTA

Molecular consequence:

NM_022168.4:c.1827_1828delinsTA - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004583954	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 12, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004583954

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 12, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004583954.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.1827_1828delinsTA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the IFIH1 protein (p.Glu609_Ala610delinsAspThr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in at least one individual who was not affected with IFIH1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with IFIH1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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