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NM_000092.5(COL4A4):c.870G>A (p.Lys290=) AND Alport syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001831050.1

Allele description [Variation Report for NM_000092.5(COL4A4):c.870G>A (p.Lys290=)]

NM_000092.5(COL4A4):c.870G>A (p.Lys290=)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
HGVS:
  • NC_000002.12:g.227103144C>T
  • NG_011592.1:g.66416G>A
  • NM_000092.5:c.870G>AMANE SELECT
  • NP_000083.3:p.Lys290=
  • LRG_231:g.66416G>A
  • NC_000002.11:g.227967860C>T
  • NM_000092.4:c.870G>A
Links:
dbSNP: rs2060620860
NCBI 1000 Genomes Browser:
rs2060620860
Molecular consequence:
  • NM_000092.5:c.870G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Alport syndrome
Synonyms:
Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis; Congenital hereditary hematuria
Identifiers:
MONDO: MONDO:0018965; MedGen: C1567741; OMIM: PS301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002084163Natera, Inc.
no assertion criteria provided
Uncertain significance
(Mar 9, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002084163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024