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NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 4, 2020
Accession:
VCV001003698.1
Variation ID:
1003698
Description:
single nucleotide variant
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NM_003002.4(SDHD):c.427A>G (p.Asn143Asp)

Allele ID
994297
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.1
Genomic location
11: 112094917 (GRCh38) GRCh38 UCSC
11: 111965641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.112094917A>G
NC_000011.9:g.111965641A>G
NG_012337.3:g.13071A>G
... more HGVS
Protein change
N104D, N143D
Other names
-
Canonical SPDI
NC_000011.10:112094916:A:G
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
Uncertain significance 1 criteria provided, single submitter Aug 4, 2020 RCV001300287.1
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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
Uncertain significance
(Aug 04, 2020)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV001489424.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces asparagine with aspartic acid at codon 143 of the SDHD protein (p.Asn143Asp). The asparagine residue is highly conserved and there is … (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 Oct 08, 2021