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NM_020719.3(PRR12):c.299C>A (p.Pro100His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 12, 2024
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:
RCV004507641.1

Allele description [Variation Report for NM_020719.3(PRR12):c.299C>A (p.Pro100His)]

NM_020719.3(PRR12):c.299C>A (p.Pro100His)

Gene:
PRR12:proline rich 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_020719.3(PRR12):c.299C>A (p.Pro100His)
HGVS:
  • NC_000019.10:g.49594553C>A
  • NG_051202.1:g.8377C>A
  • NM_020719.3:c.299C>AMANE SELECT
  • NP_065770.1:p.Pro100His
  • NC_000019.9:g.50097810C>A
  • NM_020719.1:c.299C>A
Protein change:
P100H
Molecular consequence:
  • NM_020719.3:c.299C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005011798Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 12, 2024) 		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, SCV005011798.1

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

Description

The c.299C>A (p.P100H) alteration is located in exon 3 (coding exon 3) of the PRR12 gene. This alteration results from a C to A substitution at nucleotide position 299, causing the proline (P) at amino acid position 100 to be replaced by a histidine (H). 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: May 7, 2024