NM_017841.4(SDHAF2):c.469_472del (p.Asp157fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 7, 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:: RCV002335254.2

Allele description [Variation Report for NM_017841.4(SDHAF2):c.469_472del (p.Asp157fs)]

NM_017841.4(SDHAF2):c.469_472del (p.Asp157fs)

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.469_472del (p.Asp157fs)

HGVS:

NC_000011.10:g.61446039_61446042del
NG_023393.1:g.20915_20918del
NM_017841.4:c.469_472delMANE SELECT
NP_060311.1:p.Asp157Leufs
NP_060311.1:p.Asp157fs
LRG_519t1:c.469_472del
LRG_519:g.20915_20918del
LRG_519p1:p.Asp157Leufs
NC_000011.9:g.61213511_61213514del
NM_017841.2:c.469_472delGATC

Protein change:

D157fs

Molecular consequence:

NM_017841.4:c.469_472del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002636360	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 7, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002636360

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 7, 2020)

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, SCV002636360.2

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

Description

The c.469_472delGATC variant, located in coding exon 4 of the SDHAF2 gene, results from a deletion of 4 nucleotides at nucleotide positions 469 to 472, causing a translational frameshift with a predicted alternate stop codon (p.D157Lfs*25). 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, and results in modification of the last 10 amino acids and elongation of the protein by 14 amino acids. The exact functional impact of these inserted 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: May 1, 2024

ClinVar

Relating variation to medicine