NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) AND Ehlers-Danlos syndrome, classic type, 1

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 27, 2023
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:: RCV002231685.8

Allele description [Variation Report for NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)]

NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)

Gene:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)

HGVS:

NC_000009.12:g.134809214G>A
NG_008030.1:g.172409G>A
NM_000093.5:c.3398G>AMANE SELECT
NM_001278074.1:c.3398G>A
NP_000084.3:p.Arg1133Gln
NP_000084.3:p.Arg1133Gln
NP_001265003.1:p.Arg1133Gln
LRG_737t1:c.3398G>A
LRG_737t2:c.3398G>A
LRG_737:g.172409G>A
LRG_737p1:p.Arg1133Gln
LRG_737p2:p.Arg1133Gln
NC_000009.11:g.137701060G>A
NM_000093.3:c.3398G>A
NM_000093.4:c.3398G>A

Protein change:

R1133Q

Links:

dbSNP: rs759580799

NCBI 1000 Genomes Browser:

rs759580799

Molecular consequence:

NM_000093.5:c.3398G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278074.1:c.3398G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
Synonyms:: EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019567; MedGen: C0268335; OMIM: 130000

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000631493	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Sep 27, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002547279	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000631493

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Sep 27, 2023)

germline

clinical testing

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

SCV002547279

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

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	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.

Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, Heise M, Latos-Bieleńska A, Zaremba J, Bartoszewska-Kubiak A, Haus O.

Curr Issues Mol Biol. 2022 Mar 25;44(4):1472-1478. doi: 10.3390/cimb44040099.

PubMed [citation]

PMID:: 35723357
PMCID:: PMC9164033

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000631493.6

#	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

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV002547279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine