NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) AND not specified

Germline classification:: Likely benign (1 submission)
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:: RCV000248232.5

Allele description [Variation Report for NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)]

NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)

Gene:

COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)

Other names:

NM_130445.2:c.2117C>G

HGVS:

NC_000021.9:g.45491274C>G
NG_011903.1:g.91092C>G
NM_001379500.1:c.2117C>GMANE SELECT
NM_030582.4:c.2657C>G
NM_130444.3:c.3362C>G
NP_001366429.1:p.Pro706Arg
NP_085059.2:p.Pro886Arg
NP_569711.2:p.Pro1121Arg
NC_000021.8:g.46911188C>G
NM_030582.3:c.2657C>G

Protein change:

P1121R

Links:

dbSNP: rs79980197

NCBI 1000 Genomes Browser:

rs79980197

Molecular consequence:

NM_001379500.1:c.2117C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_030582.4:c.2657C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130444.3:c.3362C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000314643	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000314643

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000314643.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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