NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) AND Focal segmental glomerulosclerosis 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 3, 2022
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:: RCV001029872.3

Allele description [Variation Report for NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)]

NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)

Gene:

TRPC6:transient receptor potential cation channel subfamily C member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.1

Genomic location:

Preferred name:

NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)

HGVS:

NC_000011.10:g.101453073C>A
NG_011476.2:g.135856G>T
NM_004621.6:c.2678G>TMANE SELECT
NP_004612.2:p.Ser893Ile
NC_000011.9:g.101323804C>A
NG_011476.1:g.135856G>T
NM_004621.5:c.2678G>T

Protein change:

S893I

Links:

dbSNP: rs1591517921

NCBI 1000 Genomes Browser:

rs1591517921

Molecular consequence:

NM_004621.6:c.2678G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Focal segmental glomerulosclerosis 2 (FSGS2)
Identifiers:: MONDO: MONDO:0011390; MedGen: C1858915; Orphanet: 656; OMIM: 603965

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001192661	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Uncertain significance (Nov 22, 2019)	germline	clinical testing
SCV002058257	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 3, 2022)	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

SCV001192661

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Uncertain significance
(Nov 22, 2019)

germline

clinical testing

SCV002058257

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 3, 2022)

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	yes	1	not provided	not provided	1	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 Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001192661.1

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

#	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

From 3billion, SCV002058257.1

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

Description

The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.811, PP3_P). A missense variant is a common mechanism associated with Glomerulosclerosis (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Mar 4, 2023

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