NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 19, 2019
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:: RCV000486936.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)]

NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)

Gene:

COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)

HGVS:

NC_000002.12:g.188994243G>A
NG_007404.1:g.24871G>A
NM_000090.4:c.1204G>AMANE SELECT
NP_000081.1:p.Gly402Ser
NP_000081.2:p.Gly402Ser
LRG_3t1:c.1204G>A
LRG_3:g.24871G>A
LRG_3p1:p.Gly402Ser
NC_000002.11:g.189858969G>A
NM_000090.3:c.1204G>A

Protein change:

G402S

Links:

dbSNP: rs1064797017

NCBI 1000 Genomes Browser:

rs1064797017

Molecular consequence:

NM_000090.4:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000574340	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Sep 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000574340

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Sep 19, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000574340.4

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

Description

Located it a Glycine residue within the G-X-Y triple helical region; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in published literature (Weerakkody et al., 2018) in an individual with sporadic thoracic aortic aneurysm and dissection; This variant is associated with the following publications: (PMID: 29543232)

#	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: Nov 5, 2022

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