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NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 2022
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:
RCV002253304.3

Allele description [Variation Report for NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)]

NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
HGVS:
  • NC_000005.10:g.13830026C>T
  • NG_013081.2:g.119455G>A
  • NM_001369.3:c.6249G>AMANE SELECT
  • NP_001360.1:p.Met2083Ile
  • NP_001360.1:p.Met2083Ile
  • NC_000005.9:g.13830135C>T
  • NM_001369.2:c.6249G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
6249G-A
Protein change:
M2083I
Links:
OMIM: 603335.0007; dbSNP: rs753614861
NCBI 1000 Genomes Browser:
rs753614861
Molecular consequence:
  • NM_001369.3:c.6249G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002525354GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jun 3, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002525354.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate abnormal splicing leading to multiple aberrant transcripts (Knowles et al., 2013); Alters the last nucleotide of the exon and is predicted to destroy the splice donor site and result in aberrant splicing; In addition, in silico predictors suggest the missense change may have a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23261302, 21270641, 31879361, 23891469, 30067075, Poplawska_2021_Abstract)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024