NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 16, 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:: RCV004021854.1

Allele description [Variation Report for NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser)]

NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser)

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.2788G>A (p.Gly930Ser)

Other names:

NM_130445.2:c.2788G>A

HGVS:

NC_000021.9:g.45504476G>A
NG_011903.1:g.104294G>A
NG_028278.2:g.63668C>T
NM_001379500.1:c.2788G>AMANE SELECT
NM_030582.4:c.3328G>A
NM_130444.3:c.4033G>A
NP_001366429.1:p.Gly930Ser
NP_085059.2:p.Gly1110Ser
NP_569711.2:p.Gly1345Ser
NC_000021.8:g.46924390G>A

Protein change:

G1110S

Links:

dbSNP: rs771054336

NCBI 1000 Genomes Browser:

rs771054336

Molecular consequence:

NM_001379500.1:c.2788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_030582.4:c.3328G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130444.3:c.4033G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004930262	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 16, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004930262

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 16, 2024)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004930262.1

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

Description

The c.2788G>A (p.G930S) alteration is located in exon 34 (coding exon 34) of the COL18A1 gene. This alteration results from a G to A substitution at nucleotide position 2788, causing the glycine (G) at amino acid position 930 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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