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NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 29, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000145447.9

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

NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)

Gene:
CCDC88C:coiled-coil domain containing 88C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.11
Genomic location:
Preferred name:
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)
HGVS:
  • NC_000014.9:g.91272737A>G
  • NG_033118.2:g.150108T>C
  • NM_001080414.4:c.5975T>CMANE SELECT
  • NP_001073883.2:p.Leu1992Pro
  • NC_000014.8:g.91739081A>G
  • NG_033118.1:g.150108T>C
  • NM_001080414.2:c.5975T>C
  • Q9P219:p.Leu1992Pro
Protein change:
L1992P
Links:
UniProtKB: Q9P219#VAR_046615; dbSNP: rs941920
NCBI 1000 Genomes Browser:
rs941920
Molecular consequence:
  • NM_001080414.4:c.5975T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000192531Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Benign
(Apr 8, 2013) 		germlineclinical testing

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

SCV000857152Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Sep 29, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192531.1

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

From Eurofins Ntd Llc (ga), SCV000857152.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024