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NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val) AND Brain small vessel disease 1 with or without ocular anomalies

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 17, 2023
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:
RCV003493321.1

Allele description [Variation Report for NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)]

NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)

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.1076G>T (p.Gly359Val)
HGVS:
  • NC_000013.11:g.110201446C>A
  • NG_011544.2:g.110704G>T
  • NM_001303110.2:c.1076G>T
  • NM_001845.6:c.1076G>TMANE SELECT
  • NP_001290039.1:p.Gly359Val
  • NP_001836.3:p.Gly359Val
  • LRG_1116t1:c.1076G>T
  • LRG_1116:g.110704G>T
  • LRG_1116p1:p.Gly359Val
  • NC_000013.10:g.110853793C>A
Protein change:
G359V
Molecular consequence:
  • NM_001303110.2:c.1076G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001845.6:c.1076G>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004239205Gemeinschaftspraxis fuer Humangenetik Dresden
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 17, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Gemeinschaftspraxis fuer Humangenetik Dresden, SCV004239205.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

This variant is not reported in HGMD 2023.2, gnomAD (v2.1.1), dbSNP (v155) or LOVD (we submitted there) so far. The nucleotide position is moderat and aminoacid position is highly conservered, prediction (SIFT, PolyPhen-2, MutationTaster2021, AGVGD and REVEL) support a deleterious effect on the gene. In summary, the variant meets our criteria to be classified as likely pathogenic. ACMG: PM2, PP2, PP3str

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024