NM_017841.4(SDHAF2):c.443del (p.Asn148fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 26, 2023
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:: RCV001022481.5

Allele description [Variation Report for NM_017841.4(SDHAF2):c.443del (p.Asn148fs)]

NM_017841.4(SDHAF2):c.443del (p.Asn148fs)

Gene:

SDHAF2:succinate dehydrogenase complex assembly factor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q12.2

Genomic location:

Preferred name:

NM_017841.4(SDHAF2):c.443del (p.Asn148fs)

HGVS:

NC_000011.10:g.61446013del
NG_023393.1:g.20889del
NM_017841.4:c.443delMANE SELECT
NP_060311.1:p.Asn148fs
LRG_519t1:c.443del
LRG_519:g.20889del
NC_000011.9:g.61213481del
NC_000011.9:g.61213485del
NM_017841.2:c.443del
NM_017841.2:c.443delA

Protein change:

N148fs

Links:

dbSNP: rs1002286076

NCBI 1000 Genomes Browser:

rs1002286076

Molecular consequence:

NM_017841.4:c.443del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001184225	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001184225

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 26, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001184225.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.443delA variant, located in coding exon 4 of the SDHAF2 gene, results from a deletion of one nucleotide at nucleotide position 443, causing a translational frameshift with a predicted alternate stop codon (p.N148Tfs*35). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of SDHAF2, is not expected to trigger nonsense-mediated mRNA decay, only alters the last 19 amino acids and extends the protein by 15 residues. The exact functional impact of these altered amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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