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NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala) AND X-linked Alport syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 29, 2022
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:
RCV004555294.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala)]

NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala)

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.1208G>C (p.Gly403Ala)
HGVS:
  • NC_000023.11:g.108591100G>C
  • NG_011977.2:g.156177G>C
  • NM_000495.5:c.1208G>C
  • NM_033380.3:c.1208G>CMANE SELECT
  • NP_000486.1:p.Gly403Ala
  • NP_203699.1:p.Gly403Ala
  • LRG_232t1:c.1208G>C
  • LRG_232t2:c.1208G>C
  • LRG_232:g.156177G>C
  • LRG_232p1:p.Gly403Ala
  • LRG_232p2:p.Gly403Ala
  • NC_000023.10:g.107834330G>C
Protein change:
G403A
Molecular consequence:
  • NM_000495.5:c.1208G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.1208G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV005044267MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Likely pathogenic
(Aug 29, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PM1_STR, PM2_SUP, PP3 (ACMG Version 4)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024