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NM_003000.3(SDHB):c.424-14_424-9dup AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 24, 2016
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:
RCV000481304.2

Allele description [Variation Report for NM_003000.3(SDHB):c.424-14_424-9dup]

NM_003000.3(SDHB):c.424-14_424-9dup

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.424-14_424-9dup
HGVS:
  • NC_000001.11:g.17027878_17027883dup
  • NG_012340.1:g.31292_31297dup
  • NM_003000.3:c.424-14_424-9dupMANE SELECT
  • LRG_316:g.31292_31297dup
  • NC_000001.10:g.17354368_17354369insAAGAGG
  • NC_000001.10:g.17354373_17354378dup
  • NM_003000.2:c.424-14_424-9dupCCTCTT
Links:
dbSNP: rs1064794554
NCBI 1000 Genomes Browser:
rs1064794554
Molecular consequence:
  • NM_003000.3:c.424-14_424-9dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000569432GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Feb 24, 2016) 		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, SCV000569432.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024