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NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) AND Autosomal recessive Alport syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 18, 2021
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:
RCV001509570.3

Allele description [Variation Report for NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)]

NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)

Genes:
MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
HGVS:
  • NC_000002.12:g.227308918G>A
  • NG_011591.1:g.149354G>A
  • NM_000091.5:c.4482G>AMANE SELECT
  • NP_000082.2:p.Leu1494=
  • NP_000082.2:p.Leu1494=
  • LRG_230t1:c.4482G>A
  • LRG_230:g.149354G>A
  • LRG_230p1:p.Leu1494=
  • NC_000002.11:g.228173634G>A
  • NM_000091.4:c.4482G>A
  • p.Leu1494Leu
Links:
dbSNP: rs181952966
NCBI 1000 Genomes Browser:
rs181952966
Molecular consequence:
  • NM_000091.5:c.4482G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autosomal recessive Alport syndrome (ATS2)
Synonyms:
Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001716335Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(May 18, 2021) 		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 Genome-Nilou Lab, SCV001716335.1

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

Last Updated: Sep 29, 2024