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NM_031934.6(RAB34):c.691C>T (p.Arg231Ter) AND Orofaciodigital syndrome 20

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2024
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:
RCV003761643.2

Allele description [Variation Report for NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)]

NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)

Gene:
RAB34:RAB34, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
HGVS:
  • NC_000017.11:g.28714814G>A
  • NM_001136045.1:c.691C>T
  • NM_001142624.2:c.838C>T
  • NM_001142625.2:c.748-183C>T
  • NM_001144942.2:c.667C>T
  • NM_001144943.1:c.862C>T
  • NM_001256276.2:c.625C>T
  • NM_001256277.2:c.691C>T
  • NM_001256278.1:c.691C>T
  • NM_001256281.3:c.*539C>T
  • NM_031934.6:c.691C>TMANE SELECT
  • NP_001129517.1:p.Arg231Ter
  • NP_001136096.2:p.Arg280Ter
  • NP_001138414.1:p.Arg223Ter
  • NP_001138415.1:p.Arg288Ter
  • NP_001243205.1:p.Arg209Ter
  • NP_001243206.1:p.Arg231Ter
  • NP_001243207.1:p.Arg231Ter
  • NP_114140.4:p.Arg231Ter
  • NC_000017.10:g.27041832G>A
  • NR_024574.1:n.1293C>T
  • NR_024575.1:n.962C>T
  • NR_024578.1:n.1269C>T
  • NR_024579.1:n.896C>T
Protein change:
R209*; ARG231TER
Links:
OMIM: 610917.0005
Molecular consequence:
  • NM_001256281.3:c.*539C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001142625.2:c.748-183C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001136045.1:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142624.2:c.838C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001144942.2:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001144943.1:c.862C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256276.2:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256277.2:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001256278.1:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031934.6:c.691C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Orofaciodigital syndrome 20
Synonyms:
Orofaciodigital syndrome XX
Identifiers:
MONDO: MONDO:0958230; MedGen: C5935578; OMIM: 620718

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004565346OMIM
no assertion criteria provided
Pathogenic
(Feb 14, 2024) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.

Batkovskyte D, Komatsu M, Hammarsjö A, Pooh R, Shimokawa O, Ikegawa S, Grigelioniene G, Nishimura G, Yamada T.

Clin Genet. 2024 Jan;105(1):87-91. doi: 10.1111/cge.14419. Epub 2023 Aug 24.

PubMed [citation]
PMID:
37619988

Details of each submission

From OMIM, SCV004565346.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.691C-T transition (c.691C-T, NM_031934.6) in the RAB34 gene, resulting in an arg231-to-ter (R231X) substitution, that was found in compound heterozygous state in a Japanese fetus with multiple malformations (OFD20; 620718) by Batkovskyte et al. (2024), see 610917.0004.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025