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NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 31, 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:
RCV001288041.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)]

NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)

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.3197G>A (p.Gly1066Asp)
HGVS:
  • NC_000023.11:g.108626300G>A
  • NG_011977.2:g.191377G>A
  • NM_000495.5:c.3197G>A
  • NM_033380.3:c.3197G>AMANE SELECT
  • NP_000486.1:p.Gly1066Asp
  • NP_203699.1:p.Gly1066Asp
  • LRG_232t1:c.3197G>A
  • LRG_232t2:c.3197G>A
  • LRG_232:g.191377G>A
  • LRG_232p1:p.Gly1066Asp
  • LRG_232p2:p.Gly1066Asp
  • NC_000023.10:g.107869530G>A
  • NG_011977.1:g.191377G>A
  • NM_000495.4:c.3197G>A
  • NM_033380.1:c.3197G>A
Protein change:
G1066D
Links:
dbSNP: rs104886221
NCBI 1000 Genomes Browser:
rs104886221
Molecular consequence:
  • NM_000495.5:c.3197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.3197G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001474852Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Dec 31, 2019) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001474852.1

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

Description

The variant disrupts a glycine residue in the canonical Gly-X-Y repeats of the triple helix domain, which are required for stability and structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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

Last Updated: Jun 23, 2024