NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met) AND Brain small vessel disease 1 with or without ocular anomalies

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 21, 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:: RCV003333558.1

Allele description [Variation Report for NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)]

NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q34

Genomic location:

Preferred name:

NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)

HGVS:

NC_000013.11:g.110211654_110211655delinsAT
NG_011544.2:g.100495_100496delinsAT
NM_001303110.2:c.460_461delinsAT
NM_001845.6:c.460_461delinsATMANE SELECT
NP_001290039.1:p.Gly154Met
NP_001836.3:p.Gly154Met
LRG_1116t1:c.460_461delinsAT
LRG_1116:g.100495_100496delinsAT
LRG_1116p1:p.Gly154Met
NC_000013.10:g.110864001_110864002delinsAT

Protein change:

G154M

Molecular consequence:

NM_001303110.2:c.460_461delinsAT - missense variant - [Sequence Ontology: SO:0001583]
NM_001845.6:c.460_461delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brain small vessel disease 1 with or without ocular anomalies (BSVD1)
Synonyms:: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT; 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
SCV004041238	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 21, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004041238

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 21, 2023)

unknown

clinical testing

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

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

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 Baylor Genetics, SCV004041238.1

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

#	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: Nov 30, 2024

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