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NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2016
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:
RCV000491018.1

Allele description [Variation Report for NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)]

NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)

Gene:
TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)
HGVS:
  • NC_000023.11:g.34656995C>G
  • NM_031442.4:c.35G>CMANE SELECT
  • NP_113630.1:p.Arg12Pro
  • NC_000023.10:g.34675112C>G
  • NM_031442.3:c.35G>C
Protein change:
R12P
Links:
dbSNP: rs1114167296
NCBI 1000 Genomes Browser:
rs1114167296
Molecular consequence:
  • NM_031442.4:c.35G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dandy-Walker syndrome (DWS)
Identifiers:
MONDO: MONDO:0009072; MeSH: D003616; MedGen: C0010964; Orphanet: 217; OMIM: 220200
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Hypoplasia of the corpus callosum
Synonyms:
Corpus callosum hypoplasia
Identifiers:
MedGen: C0344482; Human Phenotype Ontology: HP:0002079
Name:
Cerebellar atrophy
Identifiers:
MedGen: C0740279; Human Phenotype Ontology: HP:0001272
Name:
Attention deficit hyperactivity disorder (ADHD)
Identifiers:
MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282209Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia
no assertion criteria provided
Likely pathogenic
(Jan 10, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednoresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia, SCV000282209.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024