NM_022168.4(IFIH1):c.2016del (p.Asp673fs) AND Singleton-Merten syndrome 1

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000986844.2

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:: 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001135986	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001135986

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001135986.1

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

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

Last Updated: Sep 29, 2024

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