NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Feb 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000884793.3

Allele description [Variation Report for NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)]

NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)

Gene:
PDGFRB:platelet derived growth factor receptor beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)
HGVS:
  • NC_000005.10:g.150117722G>A
  • NG_012303.1:g.651C>T
  • NG_012303.2:g.651C>T
  • NG_023367.1:g.43138C>T
  • NM_001355016.2:c.2841C>T
  • NM_001355017.2:c.2550C>T
  • NM_002609.4:c.3033C>TMANE SELECT
  • NP_001341945.1:p.Ala947=
  • NP_001341946.1:p.Ala850=
  • NP_002600.1:p.Ala1011=
  • NC_000005.9:g.149497285G>A
  • NM_002609.3:c.3033C>T
Links:
dbSNP: rs375836509
NCBI 1000 Genomes Browser:
rs375836509
Molecular consequence:
  • NM_001355016.2:c.2841C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001355017.2:c.2550C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002609.4:c.3033C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Premature aging syndrome, Penttinen type (PENTT)
Synonyms:
Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly; Progeroid syndrome, Penttinen type; PENTTINEN SYNDROME
Identifiers:
MONDO: MONDO:0011150; MedGen: C1866182; Orphanet: 363665; OMIM: 601812
Name:
Basal ganglia calcification, idiopathic, 4 (IBGC4)
Synonyms:
Familial Idiopathic Basal Ganglia Calcification 4
Identifiers:
MONDO: MONDO:0014004; MedGen: C3554321; Orphanet: 1980; OMIM: 615007
Name:
Infantile myofibromatosis (IMF)
Synonyms:
FIBROMATOSIS, CONGENITAL GENERALIZED
Identifiers:
MedGen: C0432284; OMIM: PS228550
Name:
Kosaki overgrowth syndrome (KOGS)
Synonyms:
SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION
Identifiers:
MONDO: MONDO:0014704; MedGen: C4225270; OMIM: 616592

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001028194Invitaecriteria provided, single submitter
Likely benign
(Feb 27, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001028194.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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