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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004930262Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 16, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004930262.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024