NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) AND not provided

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001573345.1

Allele description [Variation Report for NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])]

NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])

Genes:

COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])

Other names:

NM_130445.2:c.2829_2837delCCCAGGCCC

HGVS:

NC_000021.9:g.45504512_45504520del
NC_000021.9:g.45504517CCCAGGCCC[1]
NG_011903.1:g.104330_104343=
NG_028278.2:g.63615TGGGGGGCC[1]
NM_001379500.1:c.2829CCCAGGCCC[1]MANE SELECT
NM_030582.4:c.3364_3377=
NM_130444.3:c.4069_4082=
NP_001366429.1:p.938PGP[3]
NP_085059.2:p.Gly1122_Pro1126=
NP_569711.2:p.Gly1357_Pro1361=
NC_000021.8:g.46924426_46924434delGGCCCCCCA
NC_000021.8:g.46924431CCCAGGCCC[1]
NM_030582.3:c.3369_3377delCCCAGGCCC

Links:

dbSNP: rs78227997

NCBI 1000 Genomes Browser:

rs78227997

Molecular consequence:

NM_001379500.1:c.2829CCCAGGCCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_030582.4:c.3364_3377= - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_130444.3:c.4069_4082= - no sequence alteration - [Sequence Ontology: SO:0002073]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001799083	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001799083

Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799083.1

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

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

Last Updated: May 27, 2023

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