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NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) AND Acrofacial dysostosis Cincinnati type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000723299.1

Allele description [Variation Report for NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe)]

NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe)

Gene:
POLR1A:RNA polymerase I subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe)
HGVS:
  • NC_000002.12:g.86099997G>A
  • NG_050742.2:g.11159C>T
  • NM_015425.6:c.253C>TMANE SELECT
  • NP_056240.2:p.Leu85Phe
  • NC_000002.11:g.86327120G>A
  • NM_015425.5:c.253C>T
Protein change:
L85F
Links:
dbSNP: rs1558788291
NCBI 1000 Genomes Browser:
rs1558788291
Molecular consequence:
  • NM_015425.6:c.253C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acrofacial dysostosis Cincinnati type
Identifiers:
MONDO: MONDO:0014651; MedGen: C4225317; Orphanet: 1200; OMIM: 616462

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854689Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Uncertain significance
(May 25, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV000854689.1

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

Last Updated: Apr 23, 2022