NM_017841.4(SDHAF2):c.29del (p.Ser10fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 6, 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:: RCV001017895.2

Allele description [Variation Report for NM_017841.4(SDHAF2):c.29del (p.Ser10fs)]

NM_017841.4(SDHAF2):c.29del (p.Ser10fs)

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.29del (p.Ser10fs)

HGVS:

NC_000011.10:g.61430175del
NG_023393.1:g.5051del
NG_051815.1:g.4818del
NM_017841.4:c.29delMANE SELECT
NP_060311.1:p.Ser10fs
LRG_519t1:c.29del
LRG_519:g.5051del
NC_000011.9:g.61197647del
NC_000011.9:g.61197647del
NM_017841.2:c.29delC

Protein change:

S10fs

Links:

dbSNP: rs1339037960

NCBI 1000 Genomes Browser:

rs1339037960

Molecular consequence:

NM_017841.4:c.29del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV001179059	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Mar 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001179059

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Mar 6, 2019)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001179059.3

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

Description

The c.29delC variant, located in coding exon 1 of the SDHAF2 gene, results from a deletion of one nucleotide at nucleotide position 29, causing a translational frameshift with a predicted alternate stop codon (p.S10Cfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, there is an alternate in-frame methionine 12 amino acids from the initiation site, and the significance of the N-terminus for this protein is not well established. 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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