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NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) AND Autosomal dominant Alport syndrome

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Dec 13, 2023
Review status:
no classifications from unflagged records
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:
RCV001849276.3

Allele description [Variation Report for NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)]

NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
HGVS:
  • NC_000023.11:g.108621817A>G
  • NG_011977.2:g.186894A>G
  • NM_000495.5:c.2692A>G
  • NM_033380.3:c.2692A>GMANE SELECT
  • NP_000486.1:p.Met898Val
  • NP_203699.1:p.Met898Val
  • LRG_232t1:c.2692A>G
  • LRG_232t2:c.2692A>G
  • LRG_232:g.186894A>G
  • LRG_232p1:p.Met898Val
  • LRG_232p2:p.Met898Val
  • NC_000023.10:g.107865047A>G
  • NG_011977.1:g.186894A>G
  • NM_000495.3:c.2692A>G
  • NM_000495.4:c.2692A>G
  • NM_033380.1:c.2692A>G
  • NM_033380.2:c.2692A>G
  • NM_033380.3:c.2692A>G
  • P29400:p.Met898Val
Protein change:
M898V
Links:
UniProtKB: P29400#VAR_011258; dbSNP: rs104886192
NCBI 1000 Genomes Browser:
rs104886192
Molecular consequence:
  • NM_000495.5:c.2692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2692A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant Alport syndrome (ATS3A)
Synonyms:
Alport syndrome dominant type; Renal failure and sensorineural hearing loss; Alport syndrome 3, autosomal dominant; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007086; MedGen: C5882663; Orphanet: 63; Orphanet: 88918; OMIM: 104200

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Monogenic causes of chronic kidney disease in adults.

Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, et al.

Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14.

PubMed [citation]
PMID:
30773290
PMCID:
PMC6431580

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106605.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106605Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None
Pathogenic
(Feb 14, 2019) 		germlineliterature only

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

Last Updated: Dec 22, 2024