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NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly) AND Oromandibular-limb hypogenesis spectrum

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 12, 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:
RCV000240071.1

Allele description [Variation Report for NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly)]

NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly)

Gene:
BCDIN3D:BCDIN3 domain containing RNA methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly)
HGVS:
  • NC_000012.12:g.49843065T>C
  • NG_053175.1:g.5065A>G
  • NM_181708.3:c.23A>GMANE SELECT
  • NP_859059.1:p.Asp8Gly
  • NC_000012.11:g.50236848T>C
  • NM_181708.2:c.23A>G
Protein change:
D8G
Links:
dbSNP: rs143608766
NCBI 1000 Genomes Browser:
rs143608766
Molecular consequence:
  • NM_181708.3:c.23A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Oromandibular-limb hypogenesis spectrum (MBS)
Synonyms:
Absence or underdevelopment of the 6th and 7th cranial nerves; Congenital facial diplegia syndrome; Congenital oculofacial paralysis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008006; MedGen: C0221060; Orphanet: 570; OMIM: 157900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000299179CHU Sainte-Justine Research Center, University of Montreal
no assertion criteria provided
Likely benign
(Aug 12, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From CHU Sainte-Justine Research Center, University of Montreal, SCV000299179.1

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

Last Updated: Sep 29, 2024