NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 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:: RCV001766368.2

Allele description [Variation Report for NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)]

NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

11q12.2

Genomic location:

Preferred name:

NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)

HGVS:

NC_000011.10:g.61438048_61438049insA
NG_023393.1:g.12924_12925insA
NM_017841.4:c.305_306insAMANE SELECT
NP_060311.1:p.Asn103fs
NP_060311.1:p.Asn103fs
LRG_519t1:c.305_306insA
LRG_519:g.12924_12925insA
LRG_519p1:p.Asn103fs
NC_000011.9:g.61205520_61205521insA
NM_017841.2:c.305_306insA

Protein change:

N103fs

Links:

dbSNP: rs753554501

NCBI 1000 Genomes Browser:

rs753554501

Molecular consequence:

NM_017841.4:c.305_306insA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001990017	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 22, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001990017

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 22, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001990017.2

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 64 amino acids are lost and replaced with 3 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: May 1, 2024

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