NM_017654.4(SAMD9):c.2247C>A (p.His749Gln) AND MIRAGE syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 31, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000984532.1

Allele description [Variation Report for NM_017654.4(SAMD9):c.2247C>A (p.His749Gln)]

NM_017654.4(SAMD9):c.2247C>A (p.His749Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_017654.4(SAMD9):c.2247C>A (p.His749Gln)

HGVS:

NC_000007.14:g.93103851G>T
NG_023419.1:g.19173C>A
NM_001193307.2:c.2247C>A
NM_017654.4:c.2247C>AMANE SELECT
NP_001180236.1:p.His749Gln
NP_060124.2:p.His749Gln
NC_000007.13:g.92733164G>T
NM_017654.3:c.2247C>A

Protein change:

H749Q

Links:

dbSNP: rs1584253388

NCBI 1000 Genomes Browser:

rs1584253388

Molecular consequence:

NM_001193307.2:c.2247C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017654.4:c.2247C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001132590	Coyote Medical Laboratory (Beijing), Coyote	no assertion criteria provided	Likely pathogenic (Dec 31, 2018)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132590

Coyote Medical Laboratory (Beijing), Coyote

no assertion criteria provided

Likely pathogenic
(Dec 31, 2018)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	yes	clinical testing

Details of each submission

From Coyote Medical Laboratory (Beijing), Coyote, SCV001132590.1

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

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

Last Updated: Apr 23, 2022

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