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NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 6, 2020)
Last evaluated:
May 14, 2019
Accession:
VCV000929233.1
Variation ID:
929233
Description:
15bp deletion
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NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del)

Allele ID
917074
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
11q23.1
Genomic location
11: 112088962-112088976 (GRCh38) GRCh38 UCSC
11: 111959686-111959700 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.112088964_112088978del
NC_000011.9:g.111959688_111959702del
NM_003002.4:c.267_281del MANE Select NP_002993.1:p.Ala90_Ser94del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:112088961:TCTGCGATGGACTATTC:TC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 14, 2019 RCV001194404.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
421 438

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 14, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363921.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: SDHD c.267_281del15 (p.Ala90_Ser94del) results in an in-frame deletion that is predicted to remove 5 amino acids from the encoded protein. The variant was … (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.

Record last updated Jun 14, 2021