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NM_003000.2(SDHB):c.722A>G (p.Tyr241Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Feb 15, 2019
Accession:
VCV000239441.5
Variation ID:
239441
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.722A>G (p.Tyr241Cys)

Allele ID
238173
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022651 (GRCh38) GRCh38 UCSC
1: 17349146 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17349146T>C
NC_000001.11:g.17022651T>C
NM_003000.2:c.722A>G NP_002991.2:p.Tyr241Cys missense
... more HGVS
Protein change
Y241C
Other names
-
Canonical SPDI
NC_000001.11:17022650:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581742
dbSNP: rs878854582
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 26, 2016 RCV000229907.1
Uncertain significance 1 criteria provided, single submitter Feb 15, 2019 RCV000826035.1
Uncertain significance 1 criteria provided, single submitter Dec 4, 2018 RCV001026179.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 26, 2016)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000287787.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change replaces tyrosine with cysteine at codon 241 of the SDHB protein (p.Tyr241Cys). The tyrosine residue is highly conserved and there is a … (more)
Uncertain significance
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967526.2
Submitted: (Jun 03, 2020)
Evidence details
Comment:
The p.Tyr241Cys variant in SDHB has not been previously reported in individuals with SDHB-related tumors and was absent from large population studies. This variant has … (more)
Uncertain significance
(Dec 04, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001188507.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Y241C variant (also known as c.722A>G), located in coding exon 7 of the SDHB gene, results from an A to G substitution at nucleotide … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs878854582...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021