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NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 22, 2016
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:
RCV000518504.2

Allele description [Variation Report for NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)]

NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)

Genes:
COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
Other names:
NM_130445.2:c.3656G>A
HGVS:
  • NC_000021.9:g.45510233G>A
  • NG_011903.1:g.110042G>A
  • NG_028278.2:g.57911C>T
  • NM_001379500.1:c.3665G>AMANE SELECT
  • NM_030582.3:c.4196G>A
  • NM_030582.4:c.4196G>A
  • NM_130444.3:c.4901G>A
  • NP_001366429.1:p.Arg1222His
  • NP_085059.2:p.Arg1399His
  • NP_569711.2:p.Arg1634His
  • NC_000021.8:g.46930147G>A
Protein change:
R1222H
Links:
dbSNP: rs201006742
NCBI 1000 Genomes Browser:
rs201006742
Molecular consequence:
  • NM_001379500.1:c.3665G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030582.4:c.4196G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130444.3:c.4901G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000612882Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Likely benign
(Aug 22, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV000612882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024