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NM_006223.3(PIN4):c.34C>G (p.Arg12Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2021
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:
RCV004093495.1

Allele description [Variation Report for NM_006223.3(PIN4):c.34C>G (p.Arg12Gly)]

NM_006223.3(PIN4):c.34C>G (p.Arg12Gly)

Gene:
PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_006223.3(PIN4):c.34C>G (p.Arg12Gly)
HGVS:
  • NC_000023.11:g.72181744C>G
  • NG_016328.1:g.5069C>G
  • NG_202849.1:g.48C>G
  • NM_001170747.1:c.34C>G
  • NM_006223.3:c.34C>G
  • NP_001164218.1:p.Arg12Gly
  • NP_006214.2:p.Arg12Gly
  • NC_000023.10:g.71401594C>G
  • NR_033187.1:n.69C>G
Protein change:
R12G
Molecular consequence:
  • NM_001170747.1:c.34C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006223.3:c.34C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003555487Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003555487.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.34C>G (p.R12G) alteration is located in exon 1 (coding exon 1) of the PIN4 gene. This alteration results from a C to G substitution at nucleotide position 34, causing the arginine (R) at amino acid position 12 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024