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NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2013
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:
RCV000150497.4

Allele description [Variation Report for NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)]

NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)

Gene:
DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)
HGVS:
  • NC_000009.12:g.34517291A>T
  • NG_008127.1:g.63479A>T
  • NM_001281428.2:c.1837A>T
  • NM_012144.4:c.1825A>TMANE SELECT
  • NP_001268357.1:p.Ile613Leu
  • NP_036276.1:p.Ile609Leu
  • NC_000009.11:g.34517289A>T
  • NM_012144.2:c.1825A>T
Protein change:
I609L
Links:
dbSNP: rs727502978
NCBI 1000 Genomes Browser:
rs727502978
Molecular consequence:
  • NM_001281428.2:c.1837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012144.4:c.1825A>T - 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
SCV000197683Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Oct 11, 2013) 		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, SCV000197683.4

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

Description

The Ile609Leu variant in DNAI1 has not been previously identified in individuals with pulmonary disease or in large population studies. This residue is poorly c onserved in evolution, suggesting that the change may be tolerated. Computation al analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional informat ion is needed to fully assess the clinical significance of this variant.

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

Last Updated: Dec 24, 2022