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NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 26, 2021)
Last evaluated:
May 17, 2021
Accession:
VCV000766771.3
Variation ID:
766771
Description:
single nucleotide variant
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NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)

Allele ID
698931
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q32
Genomic location
5: 150130627 (GRCh38) GRCh38 UCSC
5: 149510190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.150130627G>A
NC_000005.9:g.149510190G>A
NG_023367.1:g.30233C>T
... more HGVS
Protein change
P427S, P363S, P266S
Other names
-
Canonical SPDI
NC_000005.10:150130626:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00024
Exome Aggregation Consortium (ExAC) 0.00017
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00013
1000 Genomes Project 0.00060
Links
dbSNP: rs199873101
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 17, 2021 RCV000945324.2
Likely benign 1 criteria provided, single submitter Nov 11, 2020 RCV001471909.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDGFRB - - GRCh38
GRCh37
268 282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001091319.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Infantile myofibromatosis
Premature aging syndrome, Penttinen type
Allele origin: germline
Invitae
Accession: SCV001676032.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 17, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001938052.1
Submitted: (Sep 26, 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 rs199873101...

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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 Sep 29, 2021