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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004804817Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(Feb 27, 2024) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024