NM_003002.4(SDHD):c.353A>G (p.Asp118Gly) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Apr 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000220846.1

Allele description [Variation Report for NM_003002.4(SDHD):c.353A>G (p.Asp118Gly)]

NM_003002.4(SDHD):c.353A>G (p.Asp118Gly)

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.353A>G (p.Asp118Gly)
HGVS:
  • NC_000011.10:g.112094843A>G
  • NG_012337.3:g.12997A>G
  • NM_001276503.2:c.208A>G
  • NM_001276504.2:c.236A>G
  • NM_001276506.2:c.*51A>G
  • NM_003002.4:c.353A>GMANE SELECT
  • NP_001263432.1:p.Met70Val
  • NP_001263433.1:p.Asp79Gly
  • NP_002993.1:p.Asp118Gly
  • LRG_9t1:c.353A>G
  • LRG_9:g.12997A>G
  • LRG_9p1:p.Asp118Gly
  • NC_000011.9:g.111965567A>G
  • NM_003002.2:c.353A>G
  • NM_003002.3:c.353A>G
  • NR_077060.2:n.442A>G
Protein change:
D118G
Links:
dbSNP: rs750857413
NCBI 1000 Genomes Browser:
rs750857413
Molecular consequence:
  • NM_001276506.2:c.*51A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276503.2:c.208A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276504.2:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.353A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.442A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000278695Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Apr 14, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000278695.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.D118G variant (also known as c.353A>G), located in coding exon 4 of the SDHD gene, results from an A to G substitution at nucleotide position 353. The aspartic acid at codon 118 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2021

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