NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu) AND Brain small vessel disease 1 with or without ocular anomalies

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 27, 2024
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:: RCV003988706.1

Allele description [Variation Report for NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)]

NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)

Gene:

COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)

HGVS:

NC_000013.11:g.110163480C>T
NG_011544.2:g.148670G>A
NM_001845.6:c.4232G>AMANE SELECT
NP_001836.3:p.Gly1411Glu
LRG_1116t1:c.4232G>A
LRG_1116:g.148670G>A
LRG_1116p1:p.Gly1411Glu
NC_000013.10:g.110815827C>T

Protein change:

G1411E

Molecular consequence:

NM_001845.6:c.4232G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brain small vessel disease 1 with or without ocular anomalies (BSVD1)
Synonyms:: Brain small vessel disease with hemorrhage
Identifiers:: MONDO: MONDO:0008289; MedGen: C4551998; Orphanet: 2940; Orphanet: 99810; OMIM: 175780

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004804817	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Feb 27, 2024)	inherited	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004804817

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Feb 27, 2024)

inherited

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004804817.1

#	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	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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