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NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) AND Short stature

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 24, 2019
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:
RCV001263397.2

Allele description [Variation Report for NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)]

NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)

Gene:
POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)
HGVS:
  • NC_000012.12:g.132643513CA[7]
  • NC_000012.12:g.132643513_132643514CA[7]
  • NG_033840.1:g.49001TG[7]
  • NM_006231.4:c.4337_4338dupMANE SELECT
  • NP_006222.2:p.Val1447fs
  • LRG_789t1:c.4337_4338dup
  • LRG_789:g.49001TG[7]
  • NC_000012.11:g.133220098_133220099insCA
  • NC_000012.11:g.133220099CA[7]
  • NM_006231.2:c.4337_4338dup
  • NM_006231.2:c.4337_4338dupTG
  • NM_006231.3:c.4337_4338dup
Protein change:
V1447fs
Links:
dbSNP: rs758487568
NCBI 1000 Genomes Browser:
rs758487568
Molecular consequence:
  • NM_006231.4:c.4337_4338dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441440New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Likely pathogenic
(May 24, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024