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NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 11, 2015
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:
RCV000215839.2

Allele description [Variation Report for NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn)]

NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn)

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.340T>A (p.Tyr114Asn)
HGVS:
  • NC_000011.10:g.112094830T>A
  • NG_012337.3:g.12984T>A
  • NM_001276503.2:c.195T>A
  • NM_001276504.2:c.223T>A
  • NM_001276506.2:c.*38T>A
  • NM_003002.4:c.340T>AMANE SELECT
  • NP_001263432.1:p.Thr65=
  • NP_001263433.1:p.Tyr75Asn
  • NP_002993.1:p.Tyr114Asn
  • LRG_9t1:c.340T>A
  • LRG_9:g.12984T>A
  • LRG_9p1:p.Tyr114Asn
  • NC_000011.9:g.111965554T>A
  • NM_003002.2:c.340T>A
  • NR_077060.2:n.429T>A
Protein change:
Y114N
Links:
dbSNP: rs876659276
NCBI 1000 Genomes Browser:
rs876659276
Molecular consequence:
  • NM_001276506.2:c.*38T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276504.2:c.223T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003002.4:c.340T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.2:n.429T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001276503.2:c.195T>A - synonymous variant - [Sequence Ontology: SO:0001819]
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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000275545Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely pathogenic
(May 11, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000275545.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Y114N variant (also known as c.340T>A), located in coding exon 4 of the SDHD gene, results from a T to A substitution at nucleotide position 340. The tyrosine at codon 114 is replaced by asparagine, an amino acid with dissimilar properties. Another amino acid change at this codon (p.Y114C) has been identified in numerous PGL families to date and established as a founder mutation of Italian origin (Schiavi F et al. J Clin Endocrinol. Merab 2012;97(4):637-41). This amino acid position is highly conserved in available vertebrate species. In addition, the p.Y114N alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Dec 24, 2023