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NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000517187.2

Allele description [Variation Report for NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)]

NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)

Gene:
CCDC88C:coiled-coil domain containing 88C [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
14q32.11
Genomic location:
Preferred name:
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)
HGVS:
  • NC_000014.9:g.91272736_91272737delinsAG
  • NG_033118.2:g.150108_150109delinsCT
  • NM_001080414.4:c.5975_5976delinsCTMANE SELECT
  • NP_001073883.2:p.Leu1992Pro
  • NC_000014.8:g.91739080_91739081delinsAG
  • NG_033118.1:g.150108_150109delinsCT
  • NM_001080414.2:c.5975_5976delinsCT
  • p.LEU1992PRO
Protein change:
L1992P
Links:
dbSNP: rs1555413299
NCBI 1000 Genomes Browser:
rs1555413299
Molecular consequence:
  • NM_001080414.4:c.5975_5976delinsCT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000612709Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Oct 13, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000612709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024