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NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr) AND Alport syndrome

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 27, 2017
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:
RCV000349325.7

Allele description [Variation Report for NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)]

NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)

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.2791G>A (p.Ala931Thr)
HGVS:
  • NC_000002.12:g.227054663C>T
  • NG_011592.1:g.114897G>A
  • NM_000092.5:c.2791G>AMANE SELECT
  • NP_000083.3:p.Ala931Thr
  • NP_000083.3:p.Ala931Thr
  • LRG_231t1:c.2791G>A
  • LRG_231:g.114897G>A
  • LRG_231p1:p.Ala931Thr
  • NC_000002.11:g.227919379C>T
  • NM_000092.4:c.2791G>A
  • P53420:p.Ala931Thr
Protein change:
A931T
Links:
UniProtKB: P53420#VAR_008151; dbSNP: rs75875272
NCBI 1000 Genomes Browser:
rs75875272
Molecular consequence:
  • NM_000092.5:c.2791G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000428091Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002078887Natera, Inc.
no assertion criteria provided
Benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.

Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, Mookerjee I, Savige J.

Pediatr Nephrol. 2007 May;22(5):652-7. Epub 2007 Jan 10.

PubMed [citation]
PMID:
17216251

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C.

Am J Hum Genet. 1998 Nov;63(5):1329-40.

PubMed [citation]
PMID:
9792860
PMCID:
PMC1377543

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000428091.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002078887.1

#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: Feb 28, 2024