NM_003000.3(SDHB):c.638T>C (p.Met213Thr) AND Cowden syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000708782.1

Allele description [Variation Report for NM_003000.3(SDHB):c.638T>C (p.Met213Thr)]

NM_003000.3(SDHB):c.638T>C (p.Met213Thr)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
HGVS:
  • NC_000001.11:g.17023977A>G
  • NG_012340.1:g.35194T>C
  • NM_003000.2:c.638T>C
  • NM_003000.3:c.638T>CMANE SELECT
  • NP_002991.2:p.Met213Thr
  • NP_002991.2:p.Met213Thr
  • LRG_316t1:c.638T>C
  • LRG_316:g.35194T>C
  • LRG_316p1:p.Met213Thr
  • NC_000001.10:g.17350472A>G
Protein change:
M213T
Links:
dbSNP: rs202014362
NCBI 1000 Genomes Browser:
rs202014362
Molecular consequence:
  • NM_003000.2:c.638T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003000.3:c.638T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome (CS)
Synonyms:
Cowden's disease; Cowden's syndrome; Cowden disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016063; MedGen: C0018553; Orphanet: 201; OMIM: PS158350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000837730Mendelicscriteria provided, single submitter
Uncertain significance
(Jul 2, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV000837730.1

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

Last Updated: Oct 7, 2021

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