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NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 6, 2022
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:
RCV002455065.1

Allele description [Variation Report for NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)]

NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter)

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.357C>G (p.Tyr119Ter)
HGVS:
  • NC_000011.10:g.61438100C>G
  • NG_023393.1:g.12976C>G
  • NM_017841.4:c.357C>GMANE SELECT
  • NP_060311.1:p.Tyr119Ter
  • NP_060311.1:p.Tyr119Ter
  • LRG_519t1:c.357C>G
  • LRG_519:g.12976C>G
  • LRG_519p1:p.Tyr119Ter
  • NC_000011.9:g.61205572C>G
  • NM_017841.2:c.357C>G
Protein change:
Y119*
Molecular consequence:
  • NM_017841.4:c.357C>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002613289Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely pathogenic
(Apr 6, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002613289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Y119* variant (also known as c.357C>G), located in coding exon 3 of the SDHAF2 gene, results from a C to G substitution at nucleotide position 357. This changes the amino acid from a tyrosine to a stop codon within coding exon 3. This alteration occurs at the 3' terminus of theSDHAF2 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 48 amino acids of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (Ambry internal data). 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024