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NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2019
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:
RCV000492092.9

Allele description

NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)

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.314G>A (p.Trp105Ter)
HGVS:
  • NC_000011.10:g.112089011G>A
  • NG_012337.3:g.7165G>A
  • NG_033145.1:g.2788C>T
  • NM_001276503.2:c.169+1038G>A
  • NM_001276504.2:c.197G>A
  • NM_001276506.2:c.314G>A
  • NM_003002.4:c.314G>AMANE SELECT
  • NP_001263433.1:p.Trp66Ter
  • NP_001263435.1:p.Trp105Ter
  • NP_002993.1:p.Trp105Ter
  • LRG_9t1:c.314G>A
  • LRG_9:g.7165G>A
  • LRG_9p1:p.Trp105Ter
  • NC_000011.9:g.111959735G>A
  • NM_003002.2:c.314G>A
  • NM_003002.3:c.314G>A
  • NR_077060.2:n.349G>A
Protein change:
W105*
Links:
dbSNP: rs1131691065
NCBI 1000 Genomes Browser:
rs1131691065
Molecular consequence:
  • NM_001276503.2:c.169+1038G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.2:n.349G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001276504.2:c.197G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276506.2:c.314G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003002.4:c.314G>A - nonsense - [Sequence Ontology: SO:0001587]
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
SCV000581228Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Feb 14, 2019) 		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, SCV000581228.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.W105* pathogenic mutation (also known as c.314G>A), located in coding exon 3 of the SDHD gene, results from a G to A substitution at nucleotide position 314. This changes the amino acid from a tryptophan to a stop codon within coding exon 3. This mutation was reported in a male diagnosed with two head/neck paragangliomas at age 20 and in a female diagnosed with one head/neck paraganglioma at age 13 (Fishbein L et al. Ann Surg Oncol. 2013 May;20(5):1444-50). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Apr 20, 2024