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NM_003002.4(SDHD):c.315-7_315-5delinsAAA AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2023
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:
RCV004022907.1

Allele description [Variation Report for NM_003002.4(SDHD):c.315-7_315-5delinsAAA]

NM_003002.4(SDHD):c.315-7_315-5delinsAAA

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.315-7_315-5delinsAAA
HGVS:
  • NC_000011.10:g.112094798_112094800delinsAAA
  • NG_012337.3:g.12952_12954delinsAAA
  • NM_001276503.2:c.170-7_170-5delinsAAA
  • NM_001276504.2:c.198-7_198-5delinsAAA
  • NM_001276506.2:c.13-7_13-5delinsAAA
  • NM_003002.2:c.315-7_315-5delTCTinsAAA
  • NM_003002.4:c.315-7_315-5delinsAAAMANE SELECT
  • LRG_9t1:c.315-7_315-5delinsAAA
  • LRG_9:g.12952_12954delinsAAA
  • NC_000011.9:g.111965522_111965524delinsAAA
  • NM_003002.3:c.315-7_315-5delTCTinsAAA
Links:
dbSNP: rs1060503775
NCBI 1000 Genomes Browser:
rs1060503775
Molecular consequence:
  • NM_001276503.2:c.170-7_170-5delinsAAA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276504.2:c.198-7_198-5delinsAAA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276506.2:c.13-7_13-5delinsAAA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003002.4:c.315-7_315-5delinsAAA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005019727Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 27, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005019727.1

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

Description

The c.315-7_315-5delTCTinsAAA intronic variant begins 7 nucleotides before coding exon 4 in the SDHD gene. This variant results from a deletion of TCT and insertion of AAA at positions c.315-7 to c.315-5. This nucleotide region is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024