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NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 11, 2015
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:
RCV000173196.4

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]
Observations:
15

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
SCV000224290Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(May 11, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown15not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224290.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided15not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided15not providednot providednot provided

Last Updated: Sep 29, 2024