NM_000093.5(COL5A1):c.-4C>G AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 23, 2020
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:: RCV001704726.3

Allele description [Variation Report for NM_000093.5(COL5A1):c.-4C>G]

NM_000093.5(COL5A1):c.-4C>G

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.-4C>G

HGVS:

NC_000009.12:g.134642184C>G
NG_008030.1:g.5379C>G
NM_000093.5:c.-4C>GMANE SELECT
NM_001278074.1:c.-4C>G
LRG_737t1:c.-4C>G
LRG_737t2:c.-4C>G
LRG_737:g.5379C>G
NC_000009.11:g.137534030C>G
NM_000093.3:c.-4C>G
NM_000093.4:c.-4C>G

Links:

dbSNP: rs769694875

NCBI 1000 Genomes Browser:

rs769694875

Molecular consequence:

NM_000093.5:c.-4C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001278074.1:c.-4C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Chain D, Crystal Structure of NGO0477 from Neisseria gonorrhoeae
Chain D, Crystal Structure of NGO0477 from Neisseria gonorrhoeae
gi|284055753|pdb|3KXA|D

Protein
Rattus norvegicus ankyrin repeat and SOCS box containing 11 (Asb11), transcript ...
Rattus norvegicus ankyrin repeat and SOCS box containing 11 (Asb11), transcript variant 3, mRNA
gi|2833771651|ref|NM_001434015.1|

Nucleotide
Arabidopsis thaliana other RNA (AT1G04853), lncRNA
Arabidopsis thaliana other RNA (AT1G04853), lncRNA
gi|1063697669|ref|NR_138787.1|

Nucleotide
copalyl diphosphate synthase 2 [Selaginella moellendorffii]
copalyl diphosphate synthase 2 [Selaginella moellendorffii]
gi|1376915410|ref|XP_024527840.1|

Protein
Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 2, mRNA
Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 2, mRNA
gi|1675025579|ref|NM_019027.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000714823	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000714823

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 23, 2020)

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, SCV000714823.1

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

Last Updated: May 1, 2024

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