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NM_001199165.4(CEP112):c.2756T>C (p.Leu919Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004179721.1

Allele description [Variation Report for NM_001199165.4(CEP112):c.2756T>C (p.Leu919Pro)]

NM_001199165.4(CEP112):c.2756T>C (p.Leu919Pro)

Gene:
CEP112:centrosomal protein 112 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.1
Genomic location:
Preferred name:
NM_001199165.4(CEP112):c.2756T>C (p.Leu919Pro)
Other names:
NM_145036.3:c.2756T>C
HGVS:
  • NC_000017.11:g.65641007A>G
  • NM_001037325.3:c.524T>C
  • NM_001199165.4:c.2756T>CMANE SELECT
  • NM_001302891.3:c.2630T>C
  • NM_001353127.2:c.2756T>C
  • NM_001353128.2:c.2630T>C
  • NM_001353129.2:c.2759T>C
  • NP_001032402.1:p.Leu175Pro
  • NP_001186094.1:p.Leu919Pro
  • NP_001289820.1:p.Leu877Pro
  • NP_001340056.1:p.Leu919Pro
  • NP_001340057.1:p.Leu877Pro
  • NP_001340058.1:p.Leu920Pro
  • NC_000017.10:g.63637125A>G
  • NR_126542.2:n.506T>C
...more
Protein change:
L175P
Molecular consequence:
  • NM_001037325.3:c.524T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199165.4:c.2756T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302891.3:c.2630T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353127.2:c.2756T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353128.2:c.2630T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353129.2:c.2759T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126542.2:n.506T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003668858Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Dec 15, 2022)
germlineclinical testing

Citation Link

Last Updated: Nov 24, 2024

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