NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) AND Alport syndrome, autosomal recessive

Clinical significance:Benign (Last evaluated: May 18, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526741.1

Allele description [Variation Report for NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)]

NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)

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.2367A>T (p.Gly789=)
HGVS:
  • NC_000002.12:g.227059421T>A
  • NG_011592.1:g.110139A>T
  • NM_000092.4:c.2367A>T
  • NM_000092.5:c.2367A>TMANE SELECT
  • NP_000083.3:p.Gly789=
  • NP_000083.3:p.Gly789=
  • LRG_231t1:c.2367A>T
  • LRG_231:g.110139A>T
  • LRG_231p1:p.Gly789=
  • NC_000002.11:g.227924137T>A
  • p.Gly789Gly
Links:
dbSNP: rs56247709
NCBI 1000 Genomes Browser:
rs56247709
Molecular consequence:
  • NM_000092.4:c.2367A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000092.5:c.2367A>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Alport syndrome, autosomal recessive (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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737206Nilou-Genome Labcriteria provided, single submitter
Benign
(May 18, 2021)
germlineclinical testing

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

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 Nilou-Genome Lab, SCV001737206.1

#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: Oct 30, 2021

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