NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter) AND X-linked Alport syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 21, 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:: RCV001264071.4

Allele description [Variation Report for NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)]

NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)

Gene:

COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

Preferred name:

NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter)

HGVS:

NC_000023.11:g.108686123C>T
NG_011977.2:g.251200C>T
NM_000495.5:c.4291C>T
NM_033380.3:c.4309C>TMANE SELECT
NP_000486.1:p.Gln1431Ter
NP_203699.1:p.Gln1437Ter
LRG_232t1:c.4291C>T
LRG_232t2:c.4309C>T
LRG_232:g.251200C>T
LRG_232p1:p.Gln1431Ter
LRG_232p2:p.Gln1437Ter
NC_000023.10:g.107929353C>T
NG_011977.1:g.251200C>T

Protein change:

Q1431*

Links:

dbSNP: rs143778018

NCBI 1000 Genomes Browser:

rs143778018

Molecular consequence:

NM_000495.5:c.4291C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_033380.3:c.4309C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: X-linked Alport syndrome (ATS1)
Synonyms:: NEPHROPATHY AND DEAFNESS, X-LINKED; Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:: MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442171	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Apr 21, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442171

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Apr 21, 2019)

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., SCV001442171.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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