NM_003000.2(SDHB):c.225T>C (p.Ala75=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Mar 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001014966.1

Allele description [Variation Report for NM_003000.2(SDHB):c.225T>C (p.Ala75=)]

NM_003000.2(SDHB):c.225T>C (p.Ala75=)

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.225T>C (p.Ala75=)
HGVS:
  • NC_000001.11:g.17033121A>G
  • NG_012340.1:g.26050T>C
  • NM_003000.2:c.225T>C
  • NP_002991.2:p.Ala75=
  • LRG_316t1:c.225T>C
  • LRG_316:g.26050T>C
  • LRG_316p1:p.Ala75=
  • NC_000001.10:g.17359616A>G
Links:
dbSNP: rs201762207
NCBI 1000 Genomes Browser:
rs201762207
Molecular consequence:
  • NM_003000.2:c.225T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001175743Ambry Geneticscriteria provided, single submitter
Likely benign
(Mar 30, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study.

Park S, Kang SY, Kwon GY, Kwon JE, Kim SK, Kim JY, Kim CH, Kim HJ, Moon KC, Pyo JY, Park WY, Park ES, Sung JY, Sung SH, Oh YH, Lee SE, Lee W, Lee JI, Cho NH, Jung SJ, Cho MS, Cho YM, et al.

Arch Pathol Lab Med. 2017 May;141(5):671-677. doi: 10.5858/arpa.2016-0403-OA. Epub 2016 Nov 7.

PubMed [citation]
PMID:
27819762

Details of each submission

From Ambry Genetics, SCV001175743.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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