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NM_002609.4(PDGFRB):c.1872T>C (p.His624=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 15, 2020
Accession:
VCV000767318.3
Variation ID:
767318
Description:
single nucleotide variant
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NM_002609.4(PDGFRB):c.1872T>C (p.His624=)

Allele ID
698927
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q32
Genomic location
5: 150124767 (GRCh38) GRCh38 UCSC
5: 149504330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.150124767A>G
NC_000005.9:g.149504330A>G
NG_023367.1:g.36093T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:150124766:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00141
The Genome Aggregation Database (gnomAD) 0.00166
Exome Aggregation Consortium (ExAC) 0.00042
Trans-Omics for Precision Medicine (TOPMed) 0.00185
Trans-Omics for Precision Medicine (TOPMed) 0.00174
1000 Genomes Project 0.00200
The Genome Aggregation Database (gnomAD), exomes 0.00035
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
Links
dbSNP: rs141371542
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 15, 2020 RCV000946027.3
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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
Benign
(Jun 15, 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: SCV001092112.3
Submitted: (Jan 07, 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 rs141371542...

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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 Dec 04, 2021