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NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2022
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:
RCV004482351.1

Allele description [Variation Report for NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs)]

NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs)

Gene:
NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs)
HGVS:
  • NC_000002.12:g.240005240_240005244dup
  • NG_031855.2:g.25161_25165dup
  • NM_001322019.2:c.858_862dup
  • NM_001322020.2:c.858_862dup
  • NM_001410987.1:c.858_862dup
  • NM_004544.4:c.858_862dupMANE SELECT
  • NP_001308948.1:p.Asn288fs
  • NP_001308949.1:p.Asn288fs
  • NP_001397916.1:p.Asn288fs
  • NP_004535.1:p.Asn288fs
  • NC_000002.11:g.240944657_240944661dup
  • NM_004544.3:c.858_862dupGGACA
  • NR_136155.2:n.3941_3945dup
  • NR_136156.2:n.3941_3945dup
  • NR_136157.2:n.3772_3776dup
  • NR_136158.2:n.3941_3945dup
Protein change:
N288fs
Molecular consequence:
  • NM_001322019.2:c.858_862dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322020.2:c.858_862dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410987.1:c.858_862dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004544.4:c.858_862dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_136155.2:n.3941_3945dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136156.2:n.3941_3945dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136157.2:n.3772_3776dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136158.2:n.3941_3945dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004976921Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 31, 2022) 		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, SCV004976921.1

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

Description

The c.858_862dupGGACA (p.N288Rfs*20) alteration, located in exon 8 (coding exon 8) of the NDUFA10 gene, consists of a duplication of GGACA at position 858, causing a translational frameshift with a predicted alternate stop codon after 20 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: May 7, 2024