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NM_003001.5(SDHC):c.405+13G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 1, 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:
RCV002255474.2

Allele description [Variation Report for NM_003001.5(SDHC):c.405+13G>A]

NM_003001.5(SDHC):c.405+13G>A

Gene:
SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_003001.5(SDHC):c.405+13G>A
HGVS:
  • NC_000001.11:g.161356853G>A
  • NG_012767.1:g.47478G>A
  • NM_001035511.3:c.242-5476G>A
  • NM_001035512.3:c.303+13G>A
  • NM_001035513.3:c.246+13G>A
  • NM_001278172.3:c.140-5476G>A
  • NM_001407115.1:c.525+13G>A
  • NM_001407116.1:c.348+13G>A
  • NM_001407117.1:c.342+13G>A
  • NM_001407118.1:c.297+13G>A
  • NM_001407119.1:c.294+13G>A
  • NM_001407120.1:c.294+13G>A
  • NM_001407121.1:c.185-5476G>A
  • NM_003001.5:c.405+13G>AMANE SELECT
  • LRG_317t1:c.405+13G>A
  • LRG_317:g.47478G>A
  • NC_000001.10:g.161326643G>A
  • NM_003001.3:c.405+13G>A
Links:
dbSNP: rs369274171
NCBI 1000 Genomes Browser:
rs369274171
Molecular consequence:
  • NM_001035511.3:c.242-5476G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001035512.3:c.303+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001035513.3:c.246+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278172.3:c.140-5476G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407115.1:c.525+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407116.1:c.348+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407117.1:c.342+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407118.1:c.297+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407119.1:c.294+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407120.1:c.294+13G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407121.1:c.185-5476G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003001.5:c.405+13G>A - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002527113Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Benign
(Feb 1, 2021) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002527113.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024