U.S. flag

An official website of the United States government

NM_003002.4(SDHD):c.232G>C (p.Gly78Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 4, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004028737.1

Allele description [Variation Report for NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)]

NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
HGVS:
  • NC_000011.10:g.112088929G>C
  • NG_012337.3:g.7083G>C
  • NG_033145.1:g.2870C>G
  • NM_001276503.2:c.169+956G>C
  • NM_001276504.2:c.115G>C
  • NM_001276506.2:c.232G>C
  • NM_003002.2:c.232G>C
  • NM_003002.4:c.232G>CMANE SELECT
  • NP_001263433.1:p.Gly39Arg
  • NP_001263435.1:p.Gly78Arg
  • NP_002993.1:p.Gly78Arg
  • LRG_9t1:c.232G>C
  • LRG_9:g.7083G>C
  • LRG_9p1:p.Gly78Arg
  • NC_000011.9:g.111959653G>C
  • NM_003002.3:c.232G>C
  • NR_077060.2:n.267G>C
Protein change:
G39R
Links:
dbSNP: rs1592780479
NCBI 1000 Genomes Browser:
rs1592780479
Molecular consequence:
  • NM_001276503.2:c.169+956G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276504.2:c.115G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276506.2:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.267G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005020197Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Mar 4, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005020197.1

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

Description

The p.G78R variant (also known as c.232G>C), located in coding exon 3 of the SDHD gene, results from a G to C substitution at nucleotide position 232. The glycine at codon 78 is replaced by arginine, an amino acid with dissimilar properties. This variant has been observed in at least one individual with a personal and/or family history that is consistent with SDHD-related paraganglioma-pheochromocytoma syndrome (Ambry internal data). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 7, 2024