NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) AND Ehlers-Danlos syndrome, classic type, 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jul 17, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV002233656.15

Allele description

NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)

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.1052C>A (p.Pro351Gln)

HGVS:

NC_000009.12:g.134730363C>A
NG_008030.1:g.93558C>A
NM_000093.3:c.1052C>A
NM_000093.5:c.1052C>AMANE SELECT
NM_001278074.1:c.1052C>A
NP_000084.3:p.Pro351Gln
NP_000084.3:p.Pro351Gln
NP_001265003.1:p.Pro351Gln
LRG_737t1:c.1052C>A
LRG_737t2:c.1052C>A
LRG_737:g.93558C>A
LRG_737p1:p.Pro351Gln
LRG_737p2:p.Pro351Gln
NC_000009.11:g.137622209C>A
NM_000093.4:c.1052C>A

Protein change:

P351Q

Links:

dbSNP: rs887190843

NCBI 1000 Genomes Browser:

rs887190843

Molecular consequence:

NM_000093.5:c.1052C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278074.1:c.1052C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

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Chlamydomonas reinhardtii uncharacterized protein (CHLRE_16g650300v5), mRNA
Chlamydomonas reinhardtii uncharacterized protein (CHLRE_16g650300v5), mRNA
gi|2082266740|ref|XM_043070785.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000826924	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jul 5, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004176066	New York Genome Center	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Jul 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000826924

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jul 5, 2022)

germline

clinical testing

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

SCV004176066

New York Genome Center

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Jul 17, 2023)

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	1	not provided	not provided	1	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

Details of each submission

From Invitae, SCV000826924.4

#	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 New York Genome Center, SCV004176066.1

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

Last Updated: Sep 16, 2024

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