U.S. flag

An official website of the United States government

NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 19, 2024
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:
RCV002127372.5

Allele description [Variation Report for NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His)]

NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His)

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.3851G>A (p.Arg1284His)
HGVS:
  • NC_000021.9:g.45512229G>A
  • NG_011903.1:g.112038G>A
  • NG_028278.2:g.55915C>T
  • NM_001379500.1:c.3851G>AMANE SELECT
  • NM_030582.3:c.4382G>A
  • NM_030582.4:c.4382G>A
  • NM_130444.3:c.5087G>A
  • NP_001366429.1:p.Arg1284His
  • NP_085059.2:p.Arg1461His
  • NP_569711.2:p.Arg1696His
  • NC_000021.8:g.46932143G>A
Protein change:
R1284H
Links:
dbSNP: rs202049650
NCBI 1000 Genomes Browser:
rs202049650
Molecular consequence:
  • NM_001379500.1:c.3851G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030582.4:c.4382G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130444.3:c.5087G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002410728Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 19, 2024)
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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002410728.3

#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