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NM_006428.5(MRPL28):c.610G>A (p.Val204Met) 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:
RCV000240321.1

Allele description [Variation Report for NM_006428.5(MRPL28):c.610G>A (p.Val204Met)]

NM_006428.5(MRPL28):c.610G>A (p.Val204Met)

Gene:
MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_006428.5(MRPL28):c.610G>A (p.Val204Met)
HGVS:
  • NC_000016.10:g.368381C>T
  • NG_052909.1:g.7189G>A
  • NM_006428.5:c.610G>AMANE SELECT
  • NP_006419.2:p.Val204Met
  • NC_000016.9:g.418381C>T
  • NM_006428.4:c.610G>A
Protein change:
V204M
Links:
dbSNP: rs181590179
NCBI 1000 Genomes Browser:
rs181590179
Molecular consequence:
  • NM_006428.5:c.610G>A - 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
SCV000299180CHU 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, SCV000299180.1

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

Last Updated: Dec 24, 2023