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NM_024589.3(ROGDI):c.691A>G (p.Met231Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002553362.2

Allele description [Variation Report for NM_024589.3(ROGDI):c.691A>G (p.Met231Val)]

NM_024589.3(ROGDI):c.691A>G (p.Met231Val)

Gene:
ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_024589.3(ROGDI):c.691A>G (p.Met231Val)
HGVS:
  • NC_000016.10:g.4797942T>C
  • NG_032174.1:g.10009A>G
  • NM_024589.1:c.691A>G
  • NM_024589.3:c.691A>GMANE SELECT
  • NP_078865.1:p.Met231Val
  • LRG_455t1:c.691A>G
  • LRG_455:g.10009A>G
  • NC_000016.9:g.4847943T>C
  • NM_024589.2:c.691A>G
  • NR_046480.2:n.698A>G
Protein change:
M231V
Links:
dbSNP: rs137934107
NCBI 1000 Genomes Browser:
rs137934107
Molecular consequence:
  • NM_024589.3:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046480.2:n.698A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003666751Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003666751.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.691A>G (p.M231V) alteration is located in exon 9 (coding exon 9) of the ROGDI gene. This alteration results from a A to G substitution at nucleotide position 691, causing the methionine (M) at amino acid position 231 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024