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NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser) AND Mitochondrial complex 2 deficiency, nuclear type 2

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 15, 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:
RCV001807109.2

Allele description [Variation Report for NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)]

NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)

Genes:
LOC130064281:ATAC-STARR-seq lymphoblastoid silent region 10546 [Gene]
SDHAF1:succinate dehydrogenase complex assembly factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)
HGVS:
  • NC_000019.10:g.35995543G>C
  • NG_016869.1:g.5356=
  • NM_001042631.3:c.269G>CMANE SELECT
  • NP_001036096.2:p.Cys90Ser
  • NC_000019.9:g.36486445G>C
Protein change:
C90S
Links:
dbSNP: rs7249826
NCBI 1000 Genomes Browser:
rs7249826
Molecular consequence:
  • NM_001042631.3:c.269G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex 2 deficiency, nuclear type 2
Synonyms:
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2
Identifiers:
MONDO: MONDO:0030935; MedGen: C5436933; OMIM: 619166

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002054685Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002054685.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024