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NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000255000.6
Variation ID:
255000
Description:
single nucleotide variant
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NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)

Allele ID
250653
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q36.3
Genomic location
2: 227309270 (GRCh38) GRCh38 UCSC
2: 228173986 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_230:g.149706A>T
LRG_230t1:c.4707A>T LRG_230p1:p.Pro1569=
NC_000002.12:g.227309270A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:227309269:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00090
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00389
Exome Aggregation Consortium (ExAC) 0.00112
1000 Genomes Project 0.00359
The Genome Aggregation Database (gnomAD) 0.00364
The Genome Aggregation Database (gnomAD) 0.00315
Trans-Omics for Precision Medicine (TOPMed) 0.00365
Trans-Omics for Precision Medicine (TOPMed) 0.00366
Links
dbSNP: rs113401495
ClinGen: CA2147614
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Oct 18, 2016 RCV000250846.5
Benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000879950.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL4A3 - - GRCh38
GRCh37
47 1197
MFF-DT - - - GRCh38 - 1132

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302080.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Oct 18, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612949.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Mar 21, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967059.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Pro1569Pro in exon 50 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is … (more)
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001023007.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 13, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000717947.2
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs113401495...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021