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NM_003000.3(SDHB):c.749C>T (p.Thr250Ile) AND Mitochondrial complex 2 deficiency, nuclear type 4

Germline classification:
Uncertain significance (1 submission)
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:
RCV001823137.5

Allele description [Variation Report for NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)]

NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)
HGVS:
  • NC_000001.11:g.17022624G>A
  • NG_012340.1:g.36547C>T
  • NM_003000.2:c.[749C>T]
  • NM_003000.3:c.749C>TMANE SELECT
  • NP_002991.2:p.Thr250Ile
  • NP_002991.2:p.Thr250Ile
  • LRG_316t1:c.749C>T
  • LRG_316:g.36547C>T
  • LRG_316p1:p.Thr250Ile
  • NC_000001.10:g.17349119G>A
  • NM_003000.2:c.749C>T
  • NM_003000.2:c.[749C>T]
  • NM_003000.3:c.749C>T
Protein change:
T250I
Links:
dbSNP: rs1057517537
NCBI 1000 Genomes Browser:
rs1057517537
Molecular consequence:
  • NM_003000.3:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex 2 deficiency, nuclear type 4
Synonyms:
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
Identifiers:
MONDO: MONDO:0030974; MedGen: C5543176; OMIM: 619224

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073204Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV002073204.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The missense variant p.T250I in SDHB (NM_003000.3) has been submitted to ClinVar as Uncertain Significance. It has not been reported previously in affected individuals. The p.T250I variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between threonine and isoleucine. The p.T250I missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 250 of SDHB is conserved in all mammalian species. The nucleotide c.749 in SDHB is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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

Last Updated: Sep 29, 2024