NM_017654.4(SAMD9):c.2159del (p.Asn720fs) AND MIRAGE syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 7, 2018
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:: RCV000714858.3

Allele description [Variation Report for NM_017654.4(SAMD9):c.2159del (p.Asn720fs)]

NM_017654.4(SAMD9):c.2159del (p.Asn720fs)

Gene:

SAMD9:sterile alpha motif domain containing 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_017654.4(SAMD9):c.2159del (p.Asn720fs)

HGVS:

NC_000007.14:g.93103942del
NG_023419.1:g.19085del
NM_001193307.2:c.2159del
NM_017654.4:c.2159delMANE SELECT
NP_001180236.1:p.Asn720fs
NP_060124.2:p.Asn720fs
NC_000007.13:g.92733252del
NC_000007.13:g.92733255del
NM_001193307.1:c.2159delA

Protein change:

N720fs

Links:

dbSNP: rs753146043

NCBI 1000 Genomes Browser:

rs753146043

Molecular consequence:

NM_001193307.2:c.2159del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017654.4:c.2159del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: MIRAGE syndrome
Synonyms:: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY
Identifiers:: MONDO: MONDO:0014888; MedGen: C4284088; OMIM: 617053

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000845601	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 7, 2018)	unknown	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

SCV000845601

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 7, 2018)

unknown

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	unknown	yes	1	not provided	not provided	not provided	not provided	clinical 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000845601.1

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

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

Last Updated: Sep 29, 2024

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