NM_004595.5(SMS):c.443A>G (p.Gln148Arg) AND Syndromic X-linked intellectual disability Snyder type

Clinical significance:Pathogenic (Last evaluated: Jun 27, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000055905.3

Allele description [Variation Report for NM_004595.5(SMS):c.443A>G (p.Gln148Arg)]

NM_004595.5(SMS):c.443A>G (p.Gln148Arg)

Gene:
SMS:spermine synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
HGVS:
  • NC_000023.11:g.21977174A>G
  • NG_009228.1:g.41451A>G
  • NM_001258423.2:c.284A>G
  • NM_004595.5:c.443A>GMANE SELECT
  • NP_001245352.1:p.Gln95Arg
  • NP_004586.2:p.Gln148Arg
  • NC_000023.10:g.21995292A>G
  • NM_004595.3:c.443A>G
  • NM_004595.4:c.443A>G
Protein change:
Q148R
Links:
dbSNP: rs397515551
NCBI 1000 Genomes Browser:
rs397515551
Molecular consequence:
  • NM_001258423.2:c.284A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004595.5:c.443A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Syndromic X-linked intellectual disability Snyder type (MRXSSR)
Synonyms:
Snyder Robinson syndrome; X-linked mental retardation Snyder - Robinson type; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010664; MedGen: C0796160; Orphanet: 3063; OMIM: 309583

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086915GeneReviewsno assertion criteria providedpathologic
(Jun 27, 2013)
not providedcuration

SCV000188644Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Healthno assertion criteria providedpathogenicinherited, maternalnot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritednot providednot providednot providednot provided1not providedliterature only
not providedmaternalnot providednot providednot providednot provided1not providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000086915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health, SCV000188644.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
2not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednot provided1not providednot providednot providednot providednot providednot provided
2maternalnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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