NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413011.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG]

NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG
HGVS:
  • NC_000005.10:g.13901245_13901246delinsCT
  • NG_013081.2:g.48235_48236delinsAG
  • NM_001369.3:c.2052+6_2052+7delinsAGMANE SELECT
  • NC_000005.9:g.13901354_13901355delinsCT
  • NM_001369.2:c.2052+6_2052+7delTCinsAG
Links:
dbSNP: rs1057518277
NCBI 1000 Genomes Browser:
rs1057518277
Molecular consequence:
  • NM_001369.3:c.2052+6_2052+7delinsAG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491775GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 3, 2016)
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, SCV000491775.1

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

Description

The c.2052+6_2052+7delTCinsAG variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 14, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.2052+6_2052+7delTCinsAG in this individual is unknown. The c.2052+6_2052+7delTCinsAG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2052+6_2052+7delTCinsAG as a variant of uncertain significance.

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

Last Updated: Nov 27, 2021

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