U.S. flag

An official website of the United States government

NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 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:
RCV000221623.4

Allele description [Variation Report for NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)]

NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)

Gene:
ODAD3:outer dynein arm docking complex subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)
HGVS:
  • NC_000019.10:g.11426193T>C
  • NG_041777.1:g.14590A>G
  • NM_001302453.1:c.752A>G
  • NM_001302454.2:c.734A>G
  • NM_145045.5:c.914A>GMANE SELECT
  • NP_001289382.1:p.Lys251Arg
  • NP_001289383.1:p.Lys245Arg
  • NP_659482.3:p.Lys305Arg
  • NC_000019.9:g.11537013T>C
  • NM_145045.4:c.914A>G
Protein change:
K245R
Links:
dbSNP: rs762033637
NCBI 1000 Genomes Browser:
rs762033637
Molecular consequence:
  • NM_001302453.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302454.2:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145045.5:c.914A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000271540Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 29, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271540.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Lys305Arg variant in CCDC151 has not been previously reported in individua ls with primary ciliary dyskinesia, but has been identified in 10/63026 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org). Four other species (American alligator, tetradon, stickleback, and f ruitfly) carry an arginine (Arg) at this position, raising the posibility that t his chnage may be tolerated. However, this information is not predictive enough to rule out pathogenicity and additional computational prediction tools do not p rovide strong support for or against an impact to the protein. In summary, the c linical significance of the p.Lys305Arg variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: May 7, 2024