NM_003661.4(APOL1):c.976A>G (p.Ile326Val) AND Focal segmental glomerulosclerosis 4, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Feb 27, 2015
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:: RCV000785823.4

Allele description [Variation Report for NM_003661.4(APOL1):c.976A>G (p.Ile326Val)]

NM_003661.4(APOL1):c.976A>G (p.Ile326Val)

Gene:

APOL1:apolipoprotein L1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_003661.4(APOL1):c.976A>G (p.Ile326Val)

HGVS:

NC_000022.11:g.36265812A>G
NG_023228.1:g.17742A>G
NM_001136540.2:c.976A>G
NM_001136541.2:c.922A>G
NM_001362927.2:c.922A>G
NM_003661.4:c.976A>GMANE SELECT
NM_145343.3:c.1024A>G
NP_001130012.1:p.Ile326Val
NP_001130013.1:p.Ile308Val
NP_001349856.1:p.Ile308Val
NP_003652.2:p.Ile326Val
NP_663318.1:p.Ile342Val
NP_663318.1:p.Ile342Val
LRG_169t1:c.1024A>G
LRG_169:g.17742A>G
LRG_169p1:p.Ile342Val
NC_000022.10:g.36661858A>G
NM_145343.2:c.1024A>G

Protein change:

I308V

Links:

dbSNP: rs1569534160

NCBI 1000 Genomes Browser:

rs1569534160

Molecular consequence:

NM_001136540.2:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001136541.2:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362927.2:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003661.4:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145343.3:c.1024A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Focal segmental glomerulosclerosis 4, susceptibility to (FSGS4)
Identifiers:: MONDO: MONDO:0012931; MedGen: C2675525; Orphanet: 84271; OMIM: 612551

Recent activity

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Rrh protein [Mus musculus]
Rrh protein [Mus musculus]
gi|28374197|gb|AAH46288.1|

Protein
DNA-binding transcription factor, zf-fungal binuclear cluster type Toe2 [Schizos...
DNA-binding transcription factor, zf-fungal binuclear cluster type Toe2 [Schizosaccharomyces pombe]
gi|6137066|emb|CAB59617.1|

Protein
RecName: Full=Tubulin alpha chain-like 3
RecName: Full=Tubulin alpha chain-like 3
gi|342187030|sp|Q3UX10.2|TBAL3_MOUS

Protein
RNA-binding protein FUS [Caenorhabditis elegans]
RNA-binding protein FUS [Caenorhabditis elegans]
gi|17532119|ref|NP_495483.1|

Protein
Introduction - Effects of Omega-3 Fatty Acids on Cardiovascular Risk Factors and...
Introduction - Effects of Omega-3 Fatty Acids on Cardiovascular Risk Factors and Intermediate Markers of Cardiovascular Disease

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924395	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	risk factor (Feb 27, 2015)	biparental	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20647424, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924395

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

risk factor
(Feb 27, 2015)

biparental

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	2	not provided	not provided	2	not provided	clinical testing
not provided	biparental	no	2	not provided	not provided	2	not provided	clinical testing
not provided	biparental	unknown	3	not provided	not provided	3	not provided	clinical testing

Citations

PubMed

Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR.

Science. 2010 Aug 13;329(5993):841-5. doi: 10.1126/science.1193032. Epub 2010 Jul 15.

PubMed [citation]

PMID:: 20647424
PMCID:: PMC2980843

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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV000924395.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)
2	not provided	1	not provided	not provided	clinical testing	PubMed (2)
3	not provided	1	not provided	not provided	clinical testing	PubMed (2)
4	not provided	1	not provided	not provided	clinical testing	PubMed (2)
5	not provided	1	not provided	not provided	clinical testing	PubMed (2)
6	not provided	1	not provided	not provided	clinical testing	PubMed (2)
7	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

G1/G1

G1/G1; tested as part of a living donor workup

G!/G1; renal disease

G1/G1

G1/G2; mother and brother with end stage renal disease of unknown cause, tested as part of a living donor workup.

Description

G1 (when found with c.1152T>G)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	biparental	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	biparental	no	1	not provided	not provided		1	not provided	not provided	not provided
3	biparental	yes	1	not provided	not provided		1	not provided	not provided	not provided
4	biparental	unknown	1	not provided	not provided		1	not provided	not provided	not provided
5	biparental	unknown	1	not provided	not provided		1	not provided	not provided	not provided
6	biparental	unknown	1	not provided	not provided		1	not provided	not provided	not provided
7	biparental	no	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 18, 2023

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