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NM_017880.3(C2orf42):c.527C>T (p.Pro176Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 6, 2015
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:
RCV000238669.2

Allele description [Variation Report for NM_017880.3(C2orf42):c.527C>T (p.Pro176Leu)]

NM_017880.3(C2orf42):c.527C>T (p.Pro176Leu)

Genes:
LOC129934040:ATAC-STARR-seq lymphoblastoid active region 16002 [Gene]
C2orf42:chromosome 2 open reading frame 42 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_017880.3(C2orf42):c.527C>T (p.Pro176Leu)
HGVS:
  • NC_000002.12:g.70181459G>A
  • NM_001348758.2:c.527C>T
  • NM_001348759.2:c.527C>T
  • NM_001348760.2:c.527C>T
  • NM_001348761.2:c.527C>T
  • NM_001348762.2:c.527C>T
  • NM_001348763.2:c.527C>T
  • NM_001348764.2:c.527C>T
  • NM_017880.3:c.527C>TMANE SELECT
  • NP_001335687.1:p.Pro176Leu
  • NP_001335688.1:p.Pro176Leu
  • NP_001335689.1:p.Pro176Leu
  • NP_001335690.1:p.Pro176Leu
  • NP_001335691.1:p.Pro176Leu
  • NP_001335692.1:p.Pro176Leu
  • NP_001335693.1:p.Pro176Leu
  • NP_060350.1:p.Pro176Leu
  • NC_000002.11:g.70408591G>A
  • NM_017880.1:c.527C>T
  • NR_145967.2:n.855C>T
  • NR_145968.2:n.910C>T
  • NR_145969.2:n.910C>T
  • NR_145970.2:n.1137C>T
  • NR_145971.2:n.1285C>T
  • NR_145972.2:n.1285C>T
Protein change:
P176L
Links:
dbSNP: rs148471734
NCBI 1000 Genomes Browser:
rs148471734
Molecular consequence:
  • NM_001348758.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348759.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348760.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348761.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348762.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348763.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348764.2:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017880.3:c.527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_145967.2:n.855C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145968.2:n.910C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145969.2:n.910C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145970.2:n.1137C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145971.2:n.1285C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145972.2:n.1285C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000297275Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Uncertain significance
(Nov 6, 2015) 		unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000297275.3

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

Last Updated: Aug 25, 2024