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NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2022
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:
RCV002503347.1

Allele description [Variation Report for NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)]

NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)

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.3161C>T (p.Pro1054Leu)
HGVS:
  • NC_000013.11:g.110175255G>A
  • NG_011544.2:g.136895C>T
  • NM_001845.6:c.3161C>TMANE SELECT
  • NP_001836.3:p.Pro1054Leu
  • LRG_1116t1:c.3161C>T
  • LRG_1116:g.136895C>T
  • LRG_1116p1:p.Pro1054Leu
  • NC_000013.10:g.110827602G>A
  • NM_001845.4:c.3161C>T
Protein change:
P1054L
Links:
dbSNP: rs758076661
NCBI 1000 Genomes Browser:
rs758076661
Molecular consequence:
  • NM_001845.6:c.3161C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Synonyms:
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Identifiers:
MONDO: MONDO:0012726; MedGen: C2673195; Orphanet: 73229; OMIM: 611773
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
Name:
Hemorrhage, intracerebral, susceptibility to (ICH)
Synonyms:
Stroke, hemorrhagic, susceptibility to
Identifiers:
MONDO: MONDO:0100533; MedGen: C3281105; OMIM: 614519
Name:
Retinal arterial tortuosity
Synonyms:
RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY; Retinal arteries, tortuosity of
Identifiers:
MONDO: MONDO:0008373; MedGen: C0423401; Orphanet: 75326; OMIM: 180000; Human Phenotype Ontology: HP:0000631
Name:
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Synonyms:
DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE; Pontine autosomal dominant microangiopathy with leukoencephalopathy
Identifiers:
MONDO: MONDO:0032814; MedGen: C5231411; Orphanet: 477749; OMIM: 618564

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002787300Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 4, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002787300.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024