U.S. flag

An official website of the United States government

NM_000091.5(COL4A3):c.4449C>T (p.His1483=) AND Autosomal dominant Alport syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 24, 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:
RCV001276577.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.4449C>T (p.His1483=)]

NM_000091.5(COL4A3):c.4449C>T (p.His1483=)

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.4449C>T (p.His1483=)
HGVS:
  • NC_000002.12:g.227307906C>T
  • NG_011591.1:g.148342C>T
  • NM_000091.5:c.4449C>TMANE SELECT
  • NP_000082.2:p.His1483=
  • LRG_230t1:c.4449C>T
  • LRG_230:g.148342C>T
  • NC_000002.11:g.228172622C>T
  • NM_000091.4:c.4449C>T
Links:
dbSNP: rs140672401
NCBI 1000 Genomes Browser:
rs140672401
Molecular consequence:
  • NM_000091.5:c.4449C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autosomal dominant Alport syndrome (ATS3A)
Synonyms:
Alport syndrome dominant type; Renal failure and sensorineural hearing loss; ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0007086; MedGen: C5882663; Orphanet: 63; Orphanet: 88918; OMIM: 104200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001462976Natera, Inc.
no assertion criteria provided
Likely benign
(Apr 24, 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., SCV001462976.1

#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: Aug 30, 2025