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NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 24, 2020
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:
RCV002337930.2

Allele description [Variation Report for NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter)]

NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter)

Gene:
SDHAF2:succinate dehydrogenase complex assembly factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.2
Genomic location:
Preferred name:
NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter)
HGVS:
  • NC_000011.10:g.61446050C>A
  • NG_023393.1:g.20926C>A
  • NM_017841.4:c.480C>AMANE SELECT
  • NP_060311.1:p.Tyr160Ter
  • NP_060311.1:p.Tyr160Ter
  • LRG_519t1:c.480C>A
  • LRG_519:g.20926C>A
  • LRG_519p1:p.Tyr160Ter
  • NC_000011.9:g.61213522C>A
  • NM_017841.2:c.480C>A
Protein change:
Y160*
Molecular consequence:
  • NM_017841.4:c.480C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002634751Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 24, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL, Johansson PA, Nathan V, Howlie M, Symmons J, Palmer JM, Hayward NK.

PLoS One. 2018;13(4):e0194098. doi: 10.1371/journal.pone.0194098.

PubMed [citation]
PMID:
29641532
PMCID:
PMC5894988

Details of each submission

From Ambry Genetics, SCV002634751.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.Y160* variant (also known as c.480C>A), located in coding exon 4 of the SDHAF2 gene, results from a C to A substitution at nucleotide position 480. This changes the amino acid from a tyrosine to a stop codon within coding exon 4. This alteration occurs at the 3' terminus of SDHAF2 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 7 amino acids of the protein. The exact functional effect of this alteration is unknown. This alteration was identified in 1/1358 non-cancer control individuals and in 0/57 cases, in a study looking at cancer predisposition mutations in patients with cutaneous melanoma and a history of at least two additional non-cutaneous melanoma primary cancers (Pritchard AL et al. PLoS One, 2018 Apr;13:e0194098). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024