NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs) AND Autosomal recessive Alport syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 19, 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:: RCV002309805.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)]

NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)

Gene:

COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)

HGVS:

NC_000002.12:g.227054635_227054637delinsTGTCTCTTATA
NG_011592.1:g.114923_114925delinsTATAAGAGACA
NM_000092.5:c.2817_2819delinsTATAAGAGACAMANE SELECT
NP_000083.3:p.Met940Ilefs
NP_000083.3:p.Met940fs
LRG_231t1:c.2817_2819delCATinsTATAAGAGACA
LRG_231:g.114923_114925delinsTATAAGAGACA
LRG_231p1:p.Met940Ilefs
NC_000002.11:g.227919351_227919353delinsTGTCTCTTATA
NM_000092.4:c.2817_2819delCATinsTATAAGAGACA

Protein change:

M940fs

Molecular consequence:

NM_000092.5:c.2817_2819delinsTATAAGAGACA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive Alport syndrome (ATS2)
Synonyms:: Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002603684	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Feb 19, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002603684

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Feb 19, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002603684.2

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

Description

NM_000092.4(COL4A4):c.2817_2819del3ins11(M940Ifs*13) is expected to be pathogenic in the context of COL4A4-related Alport syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in COL4A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Aug 5, 2023

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