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NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 10, 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:
RCV000442702.2

Allele description [Variation Report for NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)]

NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)

Gene:
NDUFS8:NADH:ubiquinone oxidoreductase core subunit S8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)
HGVS:
  • NC_000011.10:g.68033147C>T
  • NG_017040.1:g.7531C>T
  • NM_002496.4:c.236C>TMANE SELECT
  • NP_002487.1:p.Pro79Leu
  • NC_000011.9:g.67800614C>T
  • NM_002496.2:c.236C>T
  • O00217:p.Pro79Leu
Protein change:
P79L; PRO79LEU
Links:
UniProtKB: O00217#VAR_019538; OMIM: 602141.0001; dbSNP: rs28939679
NCBI 1000 Genomes Browser:
rs28939679
Molecular consequence:
  • NM_002496.4:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000520845GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Mar 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000520845.5

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20819849, 36557887, 9837812)

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

Last Updated: May 19, 2024