NM_017841.4(SDHAF2):c.145_147del (p.Glu49del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 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:: RCV001816911.4

Allele description [Variation Report for NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)]

NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)

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.145_147del (p.Glu49del)

HGVS:

NC_000011.10:g.61437733_61437735del
NG_023393.1:g.12609_12611del
NM_017841.4:c.145_147delMANE SELECT
NP_060311.1:p.Glu49del
NP_060311.1:p.Glu49del
LRG_519t1:c.145_147del
LRG_519:g.12609_12611del
LRG_519p1:p.Glu49del
NC_000011.9:g.61205205_61205207del
NM_017841.2:c.145_147del
NM_017841.2:c.145_147delGAA

Protein change:

E49del

Links:

dbSNP: rs749431351

NCBI 1000 Genomes Browser:

rs749431351

Molecular consequence:

NM_017841.4:c.145_147del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002064759	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002064759

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 1, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002064759.1

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

Description

DNA sequence analysis of the SDHAF2 gene demonstrated a 3 base pair deletion in exon 2, c.145_147del. This in-frame deletion is predicted to result in the deletion of a single amino acid residue, p.Glu49del. This sequence change does not appear to have been previously described in patients with SDHAF2-related disorders and has been described in the gnomAD database with a frequency of 0.004% in the European sub-population (dbSNP rs749431351). The p.Glu49del change is located in a domain of the SDHAF2 protein that is not known to be functional. The functional significance of this sequence change is not known at present and its contribution to a disease phenotype cannot definitively be determined.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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