NM_003002.4(SDHD):c.57del (p.Leu20fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000482313.2

Allele description [Variation Report for NM_003002.4(SDHD):c.57del (p.Leu20fs)]

NM_003002.4(SDHD):c.57del (p.Leu20fs)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.57del (p.Leu20fs)
HGVS:
  • NC_000011.10:g.112087861del
  • NG_012337.3:g.6015del
  • NG_033145.1:g.3938del
  • NM_001276503.2:c.57del
  • NM_001276504.2:c.52+902del
  • NM_001276506.2:c.57del
  • NM_003002.4:c.57delMANE SELECT
  • NP_001263432.1:p.Leu20fs
  • NP_001263435.1:p.Leu20fs
  • NP_002993.1:p.Leu20fs
  • LRG_9t1:c.57del
  • LRG_9:g.6015del
  • LRG_9p1:p.Leu20fs
  • NC_000011.9:g.111958585del
  • NG_012337.2:g.6015del
  • NM_003002.2:c.57del
  • NM_003002.2:c.57delG
  • NM_003002.3:c.57delG
  • NR_077060.2:n.92del
Protein change:
L20fs
Links:
OMIM: 602690.0027; dbSNP: rs587776649
NCBI 1000 Genomes Browser:
rs587776649
Molecular consequence:
  • NM_001276503.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276506.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003002.4:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276504.2:c.52+902del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.2:n.92del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000565548GeneDxcriteria provided, single submitter
Pathogenic
(Jun 17, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565548.5

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

Description

Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Pasini 2008, Andrews 2018, Caetano 2021); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 17804857, 19075037, 17973943, 26916530, 23036227, 25741136, 27051561, 20418362, 27535533, 29386252, Caetano2021[Case Report], 17667967)

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

Last Updated: Dec 2, 2021

Support Center