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NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val) AND X-linked Alport syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000021365.4

Allele description [Variation Report for NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)]

NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)
HGVS:
  • NC_000023.11:g.108601950A>G
  • NG_011977.2:g.167027A>G
  • NM_000495.5:c.2107A>G
  • NM_033380.3:c.2107A>GMANE SELECT
  • NP_000486.1:p.Ile703Val
  • NP_203699.1:p.Ile703Val
  • LRG_232t1:c.2107A>G
  • LRG_232t2:c.2107A>G
  • LRG_232:g.167027A>G
  • LRG_232p1:p.Ile703Val
  • LRG_232p2:p.Ile703Val
  • NC_000023.10:g.107845180A>G
  • NG_011977.1:g.167027A>G
Protein change:
I703V
Links:
dbSNP: rs104886155
NCBI 1000 Genomes Browser:
rs104886155
Molecular consequence:
  • NM_000495.5:c.2107A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2107A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked Alport syndrome (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001141991Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141991.1

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

Last Updated: Aug 5, 2023