NM_003000.2(SDHB):c.368A>C (p.Lys123Thr) AND Hereditary Paraganglioma-Pheochromocytoma Syndromes

Clinical significance:Uncertain significance (Last evaluated: Jul 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001543131.1

Allele description [Variation Report for NM_003000.2(SDHB):c.368A>C (p.Lys123Thr)]

NM_003000.2(SDHB):c.368A>C (p.Lys123Thr)

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_003000.2(SDHB):c.368A>C (p.Lys123Thr)
HGVS:
  • NC_000001.11:g.17028655T>G
  • NG_012340.1:g.30516A>C
  • NM_003000.2:c.368A>C
  • NP_002991.2:p.Lys123Thr
  • LRG_316t1:c.368A>C
  • LRG_316:g.30516A>C
  • LRG_316p1:p.Lys123Thr
  • NC_000001.10:g.17355150T>G
Protein change:
K123T
Links:
dbSNP: rs1557741464
NCBI 1000 Genomes Browser:
rs1557741464
Molecular consequence:
  • NM_003000.2:c.368A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary Paraganglioma-Pheochromocytoma Syndromes (PGL-PCC)
Synonyms:
Hereditary Paragangliomas and Pheochromocytomas
Identifiers:
MONDO: MONDO:0017366; MedGen: C1708353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001761651St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Uncertain significance
(Jul 8, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV001761651.1

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

Description

The SDHB c.368A>C (p.Lys123Thr) missense change is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with hereditary paraganglioma-pheochromocytoma. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting.

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

Last Updated: Oct 8, 2021

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