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NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) AND Autosomal recessive Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2018
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:
RCV000995728.6

Allele description [Variation Report for NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)]

NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)

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.1831G>A (p.Gly611Arg)
HGVS:
  • NC_000002.12:g.227273021G>A
  • NG_011591.1:g.113457G>A
  • NM_000091.5:c.1831G>AMANE SELECT
  • NP_000082.2:p.Gly611Arg
  • LRG_230t1:c.1831G>A
  • LRG_230:g.113457G>A
  • NC_000002.11:g.228137737G>A
  • NC_000002.11:g.228137737G>A
  • NM_000091.4:c.1831G>A
Protein change:
G611R
Links:
dbSNP: rs1574753929
NCBI 1000 Genomes Browser:
rs1574753929
Molecular consequence:
  • NM_000091.5:c.1831G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001150053Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)
Pathogenic
(Nov 16, 2018)
paternalclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001150053.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024