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NM_014434.4(NDOR1):c.1226G>A (p.Arg409His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV004289192.1

Allele description [Variation Report for NM_014434.4(NDOR1):c.1226G>A (p.Arg409His)]

NM_014434.4(NDOR1):c.1226G>A (p.Arg409His)

Gene:
NDOR1:NADPH dependent diflavin oxidoreductase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_014434.4(NDOR1):c.1226G>A (p.Arg409His)
HGVS:
  • NC_000009.12:g.137215459G>A
  • NM_001144026.3:c.1226G>A
  • NM_001144027.3:c.1124G>A
  • NM_001144028.3:c.1205G>A
  • NM_014434.4:c.1226G>AMANE SELECT
  • NP_001137498.1:p.Arg409His
  • NP_001137499.1:p.Arg375His
  • NP_001137500.1:p.Arg402His
  • NP_055249.1:p.Arg409His
  • NC_000009.11:g.140109911G>A
  • NM_014434.2:c.1226G>A
Protein change:
R375H
Molecular consequence:
  • NM_001144026.3:c.1226G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144027.3:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144028.3:c.1205G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014434.4:c.1226G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003938608Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		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, SCV003938608.2

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

Description

The c.1226G>A (p.R409H) alteration is located in exon 10 (coding exon 10) of the NDOR1 gene. This alteration results from a G to A substitution at nucleotide position 1226, causing the arginine (R) at amino acid position 409 to be replaced by a histidine (H). 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: Oct 26, 2024